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ClinVarVariationRelease_head.xml
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<?xml version="1.0" encoding="UTF-8" standalone="yes"?>
<ClinVarVariationRelease xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" xsi:noNamespaceSchemaLocation="http://ftp.ncbi.nlm.nih.gov/pub/clinvar/xsd_public/clinvar_variation/variation_archive_1.10.xsd" ReleaseDate="2021-01-02">
<VariationArchive VariationID="441" VariationName="BCAM, EX3-4DEL" VariationType="Deletion" DateCreated="2010-12-01" DateLastUpdated="2019-03-29" Accession="VCV000000441" Version="1" RecordType="interpreted" NumberOfSubmissions="1" NumberOfSubmitters="1">
<RecordStatus>current</RecordStatus>
<Species>Homo sapiens</Species>
<InterpretedRecord>
<SimpleAllele AlleleID="15480" VariationID="441">
<GeneList>
<Gene Symbol="BCAM" FullName="basal cell adhesion molecule (Lutheran blood group)" GeneID="4059" HGNC_ID="HGNC:6722" Source="submitted" RelationshipType="asserted, but not computed">
<Location>
<CytogeneticLocation>19q13.32</CytogeneticLocation>
<SequenceLocation Assembly="GRCh38" AssemblyAccessionVersion="GCF_000001405.38" AssemblyStatus="current" Chr="19" Accession="NC_000019.10" start="44809059" stop="44821421" display_start="44809059" display_stop="44821421" Strand="+"/>
<SequenceLocation Assembly="GRCh37" AssemblyAccessionVersion="GCF_000001405.25" AssemblyStatus="previous" Chr="19" Accession="NC_000019.9" start="45312315" stop="45324677" display_start="45312315" display_stop="45324677" Strand="+"/>
</Location>
<OMIM>612773</OMIM>
</Gene>
</GeneList>
<Name>BCAM, EX3-4DEL</Name>
<VariantType>Deletion</VariantType>
<Location>
<CytogeneticLocation>19q13.2</CytogeneticLocation>
</Location>
<OtherNameList>
<Name>EX3-4DEL</Name>
</OtherNameList>
<XRefList>
<XRef Type="Allelic variant" ID="612773.0004" DB="OMIM"/>
</XRefList>
</SimpleAllele>
<ReviewStatus>no assertion criteria provided</ReviewStatus>
<RCVList>
<RCVAccession Title="BCAM, EX3-4DEL AND BLOOD GROUP--LUTHERAN NULL" DateLastEvaluated="2007-03-01" ReviewStatus="no assertion criteria provided" Interpretation="Pathogenic" SubmissionCount="1" Accession="RCV000000470" Version="4">
<InterpretedConditionList TraitSetID="125">
<InterpretedCondition DB="MedGen" ID="C4017284">BLOOD GROUP--LUTHERAN NULL</InterpretedCondition>
</InterpretedConditionList>
</RCVAccession>
</RCVList>
<Interpretations>
<Interpretation DateLastEvaluated="2007-03-01" NumberOfSubmissions="1" NumberOfSubmitters="1" Type="Clinical significance">
<Description>Pathogenic</Description>
<Citation Type="general">
<ID Source="PubMed">17319831</ID>
</Citation>
<ConditionList>
<TraitSet ID="125" Type="Disease">
<Trait ID="9638" Type="BloodGroup">
<Name>
<ElementValue Type="Preferred">BLOOD GROUP--LUTHERAN NULL</ElementValue>
<XRef Type="Allelic variant" ID="612773.0005" DB="OMIM"/>
<XRef Type="Allelic variant" ID="612773.0006" DB="OMIM"/>
<XRef Type="Allelic variant" ID="612773.0003" DB="OMIM"/>
<XRef Type="Allelic variant" ID="612773.0004" DB="OMIM"/>
</Name>
<XRef ID="C4017284" DB="MedGen"/>
</Trait>
</TraitSet>
</ConditionList>
</Interpretation>
</Interpretations>
<ClinicalAssertionList>
<ClinicalAssertion ID="20619" DateCreated="2011-01-25" DateLastUpdated="2019-03-31" SubmissionDate="2010-12-30">
<ClinVarSubmissionID localKey="612773.0004_BLOOD GROUP--LUTHERAN NULL" title="BCAM, EX3-4DEL_BLOOD GROUP--LUTHERAN NULL"/>
<ClinVarAccession Accession="SCV000020619" Type="SCV" Version="3" SubmitterName="OMIM" OrgID="3" OrganizationCategory="resource"/>
<RecordStatus>current</RecordStatus>
<ReviewStatus>no assertion criteria provided</ReviewStatus>
<Interpretation DateLastEvaluated="2007-03-01">
<Description>Pathogenic</Description>
</Interpretation>
<Assertion>variation to disease</Assertion>
<ObservedInList>
<ObservedIn>
<Sample>
<Origin>germline</Origin>
<Species>human</Species>
<AffectedStatus>not provided</AffectedStatus>
</Sample>
<Method>
<MethodType>literature only</MethodType>
</Method>
<ObservedData>
<Attribute Type="Description">For discussion of the deletion of exons 3 and 4 in the BCAM gene that was found in compound heterozygous state in a patient with the Lutheran null blood group phenotype (247420) by Karamatic Crew et al. (2007), see 612773.0003.</Attribute>
<Citation>
<ID Source="PubMed">17319831</ID>
</Citation>
<XRef DB="OMIM" ID="247420" Type="MIM"/>
</ObservedData>
</ObservedIn>
</ObservedInList>
<SimpleAllele>
<GeneList>
<Gene Symbol="BCAM"/>
</GeneList>
<Name>BCAM, EX3-4DEL</Name>
<VariantType>Variation</VariantType>
<OtherNameList>
<Name Type="NonHGVS">EX3-4DEL</Name>
</OtherNameList>
<XRefList>
<XRef DB="OMIM" ID="612773.0004" Type="Allelic variant"/>
</XRefList>
</SimpleAllele>
<TraitSet Type="Disease">
<Trait Type="Disease">
<Name>
<ElementValue Type="Preferred">BLOOD GROUP--LUTHERAN NULL</ElementValue>
</Name>
</Trait>
</TraitSet>
</ClinicalAssertion>
</ClinicalAssertionList>
<TraitMappingList>
<TraitMapping ClinicalAssertionID="20619" TraitType="Disease" MappingType="Name" MappingValue="BLOOD GROUP--LUTHERAN NULL" MappingRef="Preferred">
<MedGen CUI="C4017284" Name="BLOOD GROUP--LUTHERAN NULL"/>
</TraitMapping>
</TraitMappingList>
</InterpretedRecord>
</VariationArchive>
<VariationArchive VariationID="2060" VariationName="RDH12, 1-BP DEL, 776G" VariationType="Deletion" DateCreated="2010-12-01" DateLastUpdated="2019-03-29" Accession="VCV000002060" Version="1" RecordType="interpreted" NumberOfSubmissions="1" NumberOfSubmitters="1">
<RecordStatus>current</RecordStatus>
<Species>Homo sapiens</Species>
<InterpretedRecord>
<SimpleAllele AlleleID="17099" VariationID="2060">
<GeneList>
<Gene Symbol="RDH12" FullName="retinol dehydrogenase 12" GeneID="145226" HGNC_ID="HGNC:19977" Source="submitted" RelationshipType="asserted, but not computed">
<Location>
<CytogeneticLocation>14q24.1</CytogeneticLocation>
<SequenceLocation Assembly="GRCh38" AssemblyAccessionVersion="GCF_000001405.38" AssemblyStatus="current" Chr="14" Accession="NC_000014.9" start="67701886" stop="67734451" display_start="67701886" display_stop="67734451" Strand="+"/>
<SequenceLocation Assembly="GRCh37" AssemblyAccessionVersion="GCF_000001405.25" AssemblyStatus="previous" Chr="14" Accession="NC_000014.8" start="68168602" stop="68201167" display_start="68168602" display_stop="68201167" Strand="+"/>
</Location>
<OMIM>608830</OMIM>
</Gene>
</GeneList>
<Name>RDH12, 1-BP DEL, 776G</Name>
<VariantType>Deletion</VariantType>
<Location>
<CytogeneticLocation>14q23.3</CytogeneticLocation>
</Location>
<OtherNameList>
<Name>1-BP DEL, 776G</Name>
</OtherNameList>
<XRefList>
<XRef Type="Allelic variant" ID="608830.0015" DB="OMIM"/>
</XRefList>
</SimpleAllele>
<ReviewStatus>no assertion criteria provided</ReviewStatus>
<RCVList>
<RCVAccession Title="RDH12, 1-BP DEL, 776G AND Retinitis pigmentosa 53" DateLastEvaluated="2008-09-01" ReviewStatus="no assertion criteria provided" Interpretation="Pathogenic" SubmissionCount="1" Accession="RCV000002141" Version="2">
<InterpretedConditionList TraitSetID="523">
<InterpretedCondition DB="MedGen" ID="C3150208">Retinitis pigmentosa 53</InterpretedCondition>
</InterpretedConditionList>
</RCVAccession>
</RCVList>
<Interpretations>
<Interpretation DateLastEvaluated="2008-09-01" NumberOfSubmissions="1" NumberOfSubmitters="1" Type="Clinical significance">
<Description>Pathogenic</Description>
<Citation Type="general">
<ID Source="PubMed">18779497</ID>
</Citation>
<ConditionList>
<TraitSet ID="523" Type="Disease">
<Trait ID="9760" Type="Disease">
<Name>
<ElementValue Type="Preferred">Retinitis pigmentosa 53</ElementValue>
</Name>
<Symbol>
<ElementValue Type="Preferred">RP53</ElementValue>
<XRef ID="612712" DB="OMIM"/>
</Symbol>
<XRef ID="C3150208" DB="MedGen"/>
</Trait>
</TraitSet>
</ConditionList>
</Interpretation>
</Interpretations>
<ClinicalAssertionList>
<ClinicalAssertion ID="22299" DateCreated="2011-01-25" DateLastUpdated="2019-03-31" SubmissionDate="2010-12-30">
<ClinVarSubmissionID localKey="608830.0015_RETINITIS PIGMENTOSA 53" title="RDH12, 1-BP DEL, 776G _RETINITIS PIGMENTOSA 53"/>
<ClinVarAccession Accession="SCV000022299" Type="SCV" Version="1" SubmitterName="OMIM" OrgID="3" OrganizationCategory="resource"/>
<RecordStatus>current</RecordStatus>
<ReviewStatus>no assertion criteria provided</ReviewStatus>
<Interpretation DateLastEvaluated="2008-09-01">
<Description>Pathogenic</Description>
</Interpretation>
<Assertion>variation to disease</Assertion>
<ObservedInList>
<ObservedIn>
<Sample>
<Origin>germline</Origin>
<Species>human</Species>
<AffectedStatus>not provided</AffectedStatus>
</Sample>
<Method>
<MethodType>literature only</MethodType>
</Method>
<ObservedData>
<Attribute Type="Description">In affected members of a large 6-generation family segregating autosomal dominant retinitis pigmentosa (RP53; see 612712), Fingert et al. (2008) identified heterozygosity for a 1-bp deletion (776delG) in the RDH12 gene, resulting in a premature termination codon predicted to eliminate the highly conserved 57 terminal amino acids of RDH12. The mutation was not found in unaffected family members or in 158 controls.</Attribute>
<Citation>
<ID Source="PubMed">18779497</ID>
</Citation>
<XRef DB="OMIM" ID="612712" Type="MIM"/>
</ObservedData>
</ObservedIn>
</ObservedInList>
<SimpleAllele>
<GeneList>
<Gene Symbol="RDH12"/>
</GeneList>
<Name>RDH12, 1-BP DEL, 776G</Name>
<VariantType>Variation</VariantType>
<OtherNameList>
<Name Type="NonHGVS">1-BP DEL, 776G</Name>
</OtherNameList>
<XRefList>
<XRef DB="OMIM" ID="608830.0015" Type="Allelic variant"/>
</XRefList>
</SimpleAllele>
<TraitSet Type="Disease">
<Trait Type="Disease">
<Name>
<ElementValue Type="Preferred">RETINITIS PIGMENTOSA 53</ElementValue>
</Name>
</Trait>
</TraitSet>
</ClinicalAssertion>
</ClinicalAssertionList>
<TraitMappingList>
<TraitMapping ClinicalAssertionID="22299" TraitType="Disease" MappingType="Name" MappingValue="RETINITIS PIGMENTOSA 53" MappingRef="Preferred">
<MedGen CUI="C3150208" Name="Retinitis pigmentosa 53"/>
</TraitMapping>
</TraitMappingList>
</InterpretedRecord>
</VariationArchive>
<VariationArchive VariationID="3202" VariationName="FKTN, L1 INS" VariationType="Insertion" DateCreated="2010-12-01" DateLastUpdated="2019-03-29" Accession="VCV000003202" Version="1" RecordType="interpreted" NumberOfSubmissions="1" NumberOfSubmitters="1">
<RecordStatus>current</RecordStatus>
<Species>Homo sapiens</Species>
<InterpretedRecord>
<SimpleAllele AlleleID="18241" VariationID="3202">
<GeneList>
<Gene Symbol="FKTN" FullName="fukutin" GeneID="2218" HGNC_ID="HGNC:3622" Source="submitted" RelationshipType="asserted, but not computed">
<Location>
<CytogeneticLocation>9q31.2</CytogeneticLocation>
<SequenceLocation Assembly="GRCh38" AssemblyAccessionVersion="GCF_000001405.38" AssemblyStatus="current" Chr="9" Accession="NC_000009.12" start="105558117" stop="105655950" display_start="105558117" display_stop="105655950" Strand="+"/>
<SequenceLocation Assembly="GRCh37" AssemblyAccessionVersion="GCF_000001405.25" AssemblyStatus="previous" Chr="9" Accession="NC_000009.11" start="108320410" stop="108403398" display_start="108320410" display_stop="108403398" Strand="+"/>
</Location>
<OMIM>607440</OMIM>
</Gene>
</GeneList>
<Name>FKTN, L1 INS</Name>
<VariantType>Insertion</VariantType>
<Location>
<CytogeneticLocation>9q31</CytogeneticLocation>
</Location>
<OtherNameList>
<Name>FKTN, L1 INS</Name>
</OtherNameList>
<XRefList>
<XRef Type="Allelic variant" ID="607440.0004" DB="OMIM"/>
</XRefList>
</SimpleAllele>
<ReviewStatus>no assertion criteria provided</ReviewStatus>
<RCVList>
<RCVAccession Title="FKTN, L1 INS AND Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A4" DateLastEvaluated="1999-11-01" ReviewStatus="no assertion criteria provided" Interpretation="Pathogenic" SubmissionCount="1" Accession="RCV000003355" Version="3">
<InterpretedConditionList TraitSetID="820">
<InterpretedCondition DB="MedGen" ID="CN355827">Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A4</InterpretedCondition>
</InterpretedConditionList>
</RCVAccession>
</RCVList>
<Interpretations>
<Interpretation DateLastEvaluated="1999-11-01" NumberOfSubmissions="1" NumberOfSubmitters="1" Type="Clinical significance">
<Description>Pathogenic</Description>
<Citation Type="general">
<ID Source="PubMed">10545611</ID>
</Citation>
<ConditionList>
<TraitSet ID="820" Type="Disease">
<Trait ID="9860" Type="Disease">
<Name>
<ElementValue Type="Alternate">MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4</ElementValue>
<XRef Type="Allelic variant" ID="607440.0003" DB="OMIM"/>
<XRef Type="Allelic variant" ID="607440.0006" DB="OMIM"/>
<XRef Type="Allelic variant" ID="607440.0013" DB="OMIM"/>
<XRef Type="Allelic variant" ID="607440.0018" DB="OMIM"/>
<XRef Type="Allelic variant" ID="607440.0002" DB="OMIM"/>
<XRef Type="Allelic variant" ID="607440.0005" DB="OMIM"/>
<XRef Type="Allelic variant" ID="607440.0016" DB="OMIM"/>
<XRef Type="Allelic variant" ID="607440.0001" DB="OMIM"/>
<XRef Type="Allelic variant" ID="607440.0004" DB="OMIM"/>
<XRef Type="Allelic variant" ID="607440.0007" DB="OMIM"/>
<XRef Type="Allelic variant" ID="607440.0017" DB="OMIM"/>
</Name>
<Name>
<ElementValue Type="Preferred">Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A4</ElementValue>
</Name>
<XRef ID="CN355827" DB="MedGen"/>
</Trait>
</TraitSet>
</ConditionList>
</Interpretation>
</Interpretations>
<ClinicalAssertionList>
<ClinicalAssertion ID="23513" DateCreated="2011-01-25" DateLastUpdated="2019-03-31" SubmissionDate="2010-12-30">
<ClinVarSubmissionID localKey="607440.0004_MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4" title="FKTN, L1 INS_MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4"/>
<ClinVarAccession Accession="SCV000023513" Type="SCV" Version="2" SubmitterName="OMIM" OrgID="3" OrganizationCategory="resource"/>
<RecordStatus>current</RecordStatus>
<ReviewStatus>no assertion criteria provided</ReviewStatus>
<Interpretation DateLastEvaluated="1999-11-01">
<Description>Pathogenic</Description>
</Interpretation>
<Assertion>variation to disease</Assertion>
<ObservedInList>
<ObservedIn>
<Sample>
<Origin>germline</Origin>
<Species>human</Species>
<AffectedStatus>not provided</AffectedStatus>
</Sample>
<Method>
<MethodType>literature only</MethodType>
</Method>
<ObservedData>
<Attribute Type="Description">In 2 unrelated patients with unusually severe FCMD (MDDGA4; 253800), Kondo-Iida et al. (1999) detected a 1.2-kb L1 insertion in the FKTN gene. Each patient carried the founder 3-kb retrotransposal insertion (607440.0001) on one allele and a distinctive haplotype on the other. Sequence analysis revealed that the 3-prime region of an L1 repetitive element had been inserted 24 basepairs before the intron 7-exon 8 boundary. The patients' RNA was tested for the effects of the insertion by means of reverse transcriptase-PCR analysis, using primers that amplified exons 5-10. Products of various sizes were obtained, suggesting exon skipping.</Attribute>
<Citation>
<ID Source="PubMed">10545611</ID>
</Citation>
<XRef DB="OMIM" ID="253800" Type="MIM"/>
</ObservedData>
</ObservedIn>
</ObservedInList>
<SimpleAllele>
<GeneList>
<Gene Symbol="FKTN"/>
</GeneList>
<Name>FKTN, L1 INS</Name>
<VariantType>Variation</VariantType>
<OtherNameList>
<Name Type="NonHGVS">L1 INS</Name>
</OtherNameList>
<XRefList>
<XRef DB="OMIM" ID="607440.0004" Type="Allelic variant"/>
</XRefList>
</SimpleAllele>
<TraitSet Type="Disease">
<Trait Type="Disease">
<Name>
<ElementValue Type="Preferred">MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4</ElementValue>
</Name>
</Trait>
</TraitSet>
</ClinicalAssertion>
</ClinicalAssertionList>
<TraitMappingList>
<TraitMapping ClinicalAssertionID="23513" TraitType="Disease" MappingType="Name" MappingValue="MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4" MappingRef="Preferred">
<MedGen CUI="C0410174" Name="Fukuyama congenital muscular dystrophy"/>
</TraitMapping>
</TraitMappingList>
</InterpretedRecord>
</VariationArchive>
<VariationArchive VariationID="3212" VariationName="FKTN, 473-BP DEL, NT5370" VariationType="Deletion" DateCreated="2010-12-01" DateLastUpdated="2019-03-29" Accession="VCV000003212" Version="1" RecordType="interpreted" NumberOfSubmissions="1" NumberOfSubmitters="1">
<RecordStatus>current</RecordStatus>
<Species>Homo sapiens</Species>
<InterpretedRecord>
<SimpleAllele AlleleID="18251" VariationID="3212">
<GeneList>
<Gene Symbol="FKTN" FullName="fukutin" GeneID="2218" HGNC_ID="HGNC:3622" Source="submitted" RelationshipType="asserted, but not computed">
<Location>
<CytogeneticLocation>9q31.2</CytogeneticLocation>
<SequenceLocation Assembly="GRCh38" AssemblyAccessionVersion="GCF_000001405.38" AssemblyStatus="current" Chr="9" Accession="NC_000009.12" start="105558117" stop="105655950" display_start="105558117" display_stop="105655950" Strand="+"/>
<SequenceLocation Assembly="GRCh37" AssemblyAccessionVersion="GCF_000001405.25" AssemblyStatus="previous" Chr="9" Accession="NC_000009.11" start="108320410" stop="108403398" display_start="108320410" display_stop="108403398" Strand="+"/>
</Location>
<OMIM>607440</OMIM>
</Gene>
</GeneList>
<Name>FKTN, 473-BP DEL, NT5370</Name>
<VariantType>Deletion</VariantType>
<Location>
<CytogeneticLocation>9q31</CytogeneticLocation>
</Location>
<OtherNameList>
<Name>473-BP DEL, NT5370</Name>
</OtherNameList>
<XRefList>
<XRef Type="Allelic variant" ID="607440.0013" DB="OMIM"/>
</XRefList>
</SimpleAllele>
<ReviewStatus>no assertion criteria provided</ReviewStatus>
<RCVList>
<RCVAccession Title="FKTN, 473-BP DEL, NT5370 AND Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A4" DateLastEvaluated="2008-02-01" ReviewStatus="no assertion criteria provided" Interpretation="Pathogenic" SubmissionCount="1" Accession="RCV000003367" Version="3">
<InterpretedConditionList TraitSetID="820">
<InterpretedCondition DB="MedGen" ID="CN355827">Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A4</InterpretedCondition>
</InterpretedConditionList>
</RCVAccession>
</RCVList>
<Interpretations>
<Interpretation DateLastEvaluated="2008-02-01" NumberOfSubmissions="1" NumberOfSubmitters="1" Type="Clinical significance">
<Description>Pathogenic</Description>
<Citation Type="general">
<ID Source="PubMed">18177472</ID>
</Citation>
<ConditionList>
<TraitSet ID="820" Type="Disease">
<Trait ID="9860" Type="Disease">
<Name>
<ElementValue Type="Alternate">MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4</ElementValue>
<XRef Type="Allelic variant" ID="607440.0003" DB="OMIM"/>
<XRef Type="Allelic variant" ID="607440.0006" DB="OMIM"/>
<XRef Type="Allelic variant" ID="607440.0013" DB="OMIM"/>
<XRef Type="Allelic variant" ID="607440.0018" DB="OMIM"/>
<XRef Type="Allelic variant" ID="607440.0002" DB="OMIM"/>
<XRef Type="Allelic variant" ID="607440.0005" DB="OMIM"/>
<XRef Type="Allelic variant" ID="607440.0016" DB="OMIM"/>
<XRef Type="Allelic variant" ID="607440.0001" DB="OMIM"/>
<XRef Type="Allelic variant" ID="607440.0004" DB="OMIM"/>
<XRef Type="Allelic variant" ID="607440.0007" DB="OMIM"/>
<XRef Type="Allelic variant" ID="607440.0017" DB="OMIM"/>
</Name>
<Name>
<ElementValue Type="Preferred">Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A4</ElementValue>
</Name>
<XRef ID="CN355827" DB="MedGen"/>
</Trait>
</TraitSet>
</ConditionList>
</Interpretation>
</Interpretations>
<ClinicalAssertionList>
<ClinicalAssertion ID="23525" DateCreated="2011-01-25" DateLastUpdated="2019-03-31" SubmissionDate="2010-12-30">
<ClinVarSubmissionID localKey="607440.0013_MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4" title="FKTN, 473-BP DEL, NT5370_MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4"/>
<ClinVarAccession Accession="SCV000023525" Type="SCV" Version="2" SubmitterName="OMIM" OrgID="3" OrganizationCategory="resource"/>
<RecordStatus>current</RecordStatus>
<ReviewStatus>no assertion criteria provided</ReviewStatus>
<Interpretation DateLastEvaluated="2008-02-01">
<Description>Pathogenic</Description>
</Interpretation>
<Assertion>variation to disease</Assertion>
<ObservedInList>
<ObservedIn>
<Sample>
<Origin>germline</Origin>
<Species>human</Species>
<AffectedStatus>not provided</AffectedStatus>
</Sample>
<Method>
<MethodType>literature only</MethodType>
</Method>
<ObservedData>
<Attribute Type="Description">For discussion of the 473-bp deletion in exon 10 of the FKTN gene, which included the polyadenylation signal, that was found in compound heterozygous state in a patient diagnosed with Walker-Warburg syndrome (MDDGA4; 253800) by Cotarelo et al. (2008), see 607440.0012.</Attribute>
<Citation>
<ID Source="PubMed">18177472</ID>
</Citation>
<XRef DB="OMIM" ID="253800" Type="MIM"/>
</ObservedData>
</ObservedIn>
</ObservedInList>
<SimpleAllele>
<GeneList>
<Gene Symbol="FKTN"/>
</GeneList>
<Name>FKTN, 473-BP DEL, NT5370</Name>
<VariantType>Variation</VariantType>
<OtherNameList>
<Name Type="NonHGVS">473-BP DEL, NT5370</Name>
</OtherNameList>
<XRefList>
<XRef DB="OMIM" ID="607440.0013" Type="Allelic variant"/>
</XRefList>
</SimpleAllele>
<TraitSet Type="Disease">
<Trait Type="Disease">
<Name>
<ElementValue Type="Preferred">MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4</ElementValue>
</Name>
</Trait>
</TraitSet>
</ClinicalAssertion>
</ClinicalAssertionList>
<TraitMappingList>
<TraitMapping ClinicalAssertionID="23525" TraitType="Disease" MappingType="Name" MappingValue="MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4" MappingRef="Preferred">
<MedGen CUI="C0410174" Name="Fukuyama congenital muscular dystrophy"/>
</TraitMapping>
</TraitMappingList>
</InterpretedRecord>
</VariationArchive>
<VariationArchive VariationID="3875" VariationName="HEXB, 24-BP INS" VariationType="Insertion" DateCreated="2010-12-01" DateLastUpdated="2019-03-29" Accession="VCV000003875" Version="1" RecordType="interpreted" NumberOfSubmissions="1" NumberOfSubmitters="1">
<RecordStatus>current</RecordStatus>
<Species>Homo sapiens</Species>
<InterpretedRecord>
<SimpleAllele AlleleID="18914" VariationID="3875">
<GeneList>
<Gene Symbol="HEXB" FullName="hexosaminidase subunit beta" GeneID="3074" HGNC_ID="HGNC:4879" Source="submitted" RelationshipType="asserted, but not computed">
<Location>
<CytogeneticLocation>5q13.3</CytogeneticLocation>
<SequenceLocation Assembly="GRCh38" AssemblyAccessionVersion="GCF_000001405.38" AssemblyStatus="current" Chr="5" Accession="NC_000005.10" start="74640023" stop="74721288" display_start="74640023" display_stop="74721288" Strand="+"/>
<SequenceLocation Assembly="GRCh37" AssemblyAccessionVersion="GCF_000001405.25" AssemblyStatus="previous" Chr="5" Accession="NC_000005.9" start="73980968" stop="74017112" display_start="73980968" display_stop="74017112" Strand="+"/>
</Location>
<OMIM>606873</OMIM>
</Gene>
</GeneList>
<Name>HEXB, 24-BP INS</Name>
<VariantType>Insertion</VariantType>
<Location>
<CytogeneticLocation>5q13</CytogeneticLocation>
</Location>
<OtherNameList>
<Name>24-BP INS</Name>
</OtherNameList>
<XRefList>
<XRef Type="Allelic variant" ID="606873.0002" DB="OMIM"/>
</XRefList>
</SimpleAllele>
<ReviewStatus>no assertion criteria provided</ReviewStatus>
<RCVList>
<RCVAccession Title="HEXB, 24-BP INS AND Sandhoff disease, juvenile type" DateLastEvaluated="1990-10-15" ReviewStatus="no assertion criteria provided" Interpretation="Pathogenic" SubmissionCount="1" Accession="RCV000004079" Version="2">
<InterpretedConditionList TraitSetID="1060">
<InterpretedCondition DB="MedGen" ID="C1849321">Sandhoff disease, juvenile type</InterpretedCondition>
</InterpretedConditionList>
</RCVAccession>
</RCVList>
<Interpretations>
<Interpretation DateLastEvaluated="1990-10-15" NumberOfSubmissions="1" NumberOfSubmitters="1" Type="Clinical significance">
<Description>Pathogenic</Description>
<Citation Type="general">
<ID Source="PubMed">10724</ID>
</Citation>
<Citation Type="general">
<ID Source="PubMed">2170400</ID>
</Citation>
<Citation Type="general">
<ID Source="PubMed">2522450</ID>
</Citation>
<ConditionList>
<TraitSet ID="1060" Type="Disease">
<Trait ID="8971" Type="Disease">
<Name>
<ElementValue Type="Preferred">Sandhoff disease, juvenile type</ElementValue>
</Name>
<XRef ID="C1849321" DB="MedGen"/>
</Trait>
</TraitSet>
</ConditionList>
</Interpretation>
</Interpretations>
<ClinicalAssertionList>
<ClinicalAssertion ID="24245" DateCreated="2011-01-25" DateLastUpdated="2019-03-31" SubmissionDate="2010-12-30">
<ClinVarSubmissionID localKey="606873.0002_SANDHOFF DISEASE, JUVENILE TYPE" title="HEXB, 24-BP INS_SANDHOFF DISEASE, JUVENILE TYPE"/>
<ClinVarAccession Accession="SCV000024245" Type="SCV" Version="1" SubmitterName="OMIM" OrgID="3" OrganizationCategory="resource"/>
<RecordStatus>current</RecordStatus>
<ReviewStatus>no assertion criteria provided</ReviewStatus>
<Interpretation DateLastEvaluated="1990-10-15">
<Description>Pathogenic</Description>
</Interpretation>
<Assertion>variation to disease</Assertion>
<ObservedInList>
<ObservedIn>
<Sample>
<Origin>germline</Origin>
<Species>human</Species>
<AffectedStatus>not provided</AffectedStatus>
</Sample>
<Method>
<MethodType>literature only</MethodType>
</Method>
<ObservedData>
<Attribute Type="Description">In a case of the juvenile form of Sandhoff disease (268800) reported by Wood and MacDougall (1976), Nakano and Suzuki (1989) showed that a cDNA clone isolated from fibroblasts contained an extra 24-base segment between exons 12 and 13. This segment was identified as the 3-prime terminus of intron 12. The remainder of the coding sequence was completely normal. The insertion was 'in frame' and added 8 amino acids between amino acids 491 and 492 of the enzyme protein. It was located only 5 amino acids away from a possible glycosylation site. Gene amplification by the PCR and subsequent sequencing of genomic DNA showed that the patient was a compound heterozygote. In 1 allele there was a single nucleotide transition from normal G to A at 26 bases from the 3-prime terminus of intron 12. This mutation generated a consensus sequence for the 3-prime splice site for an intron and thus explained the abnormal mRNAs that retain 24 bases of the 3-prime terminus of intron 12. The intron 12 and flanking exons 12 and 13 sequences were normal in the other allele. The other mutant allele was thought to be of an mRNA-negative type. The same mutation was found in a 35-year-old Japanese man with manifestations of juvenile Sandhoff disease: progressive neurogenic muscular atrophy, cerebellar ataxia, and mental deterioration beginning at age 10. Dlott et al. (1990) found the same mutation in cells from 2 juvenile Sandhoff disease patients and a third, asymptomatic individual.</Attribute>
<Citation>
<ID Source="PubMed">10724</ID>
</Citation>
<Citation>
<ID Source="PubMed">2522450</ID>
</Citation>
<Citation>
<ID Source="PubMed">2170400</ID>
</Citation>
<XRef DB="OMIM" ID="268800" Type="MIM"/>
</ObservedData>
</ObservedIn>
</ObservedInList>
<SimpleAllele>
<GeneList>
<Gene Symbol="HEXB"/>
</GeneList>
<Name>HEXB, 24-BP INS</Name>
<VariantType>Variation</VariantType>
<OtherNameList>
<Name Type="NonHGVS">24-BP INS</Name>
</OtherNameList>
<XRefList>
<XRef DB="OMIM" ID="606873.0002" Type="Allelic variant"/>
</XRefList>
</SimpleAllele>
<TraitSet Type="Disease">
<Trait Type="Disease">
<Name>
<ElementValue Type="Preferred">SANDHOFF DISEASE, JUVENILE TYPE</ElementValue>
</Name>
</Trait>
</TraitSet>
</ClinicalAssertion>
</ClinicalAssertionList>
<TraitMappingList>
<TraitMapping ClinicalAssertionID="24245" TraitType="Disease" MappingType="Name" MappingValue="SANDHOFF DISEASE, JUVENILE TYPE" MappingRef="Preferred">
<MedGen CUI="C1849321" Name="Sandhoff disease, juvenile type"/>
</TraitMapping>
</TraitMappingList>
</InterpretedRecord>
</VariationArchive>
<VariationArchive VariationID="3876" VariationName="HEXB, 18-BP INS" VariationType="Insertion" DateCreated="2010-12-01" DateLastUpdated="2019-03-29" Accession="VCV000003876" Version="1" RecordType="interpreted" NumberOfSubmissions="1" NumberOfSubmitters="1">
<RecordStatus>current</RecordStatus>
<Species>Homo sapiens</Species>
<InterpretedRecord>
<SimpleAllele AlleleID="18915" VariationID="3876">
<GeneList>
<Gene Symbol="HEXB" FullName="hexosaminidase subunit beta" GeneID="3074" HGNC_ID="HGNC:4879" Source="submitted" RelationshipType="asserted, but not computed">
<Location>
<CytogeneticLocation>5q13.3</CytogeneticLocation>
<SequenceLocation Assembly="GRCh38" AssemblyAccessionVersion="GCF_000001405.38" AssemblyStatus="current" Chr="5" Accession="NC_000005.10" start="74640023" stop="74721288" display_start="74640023" display_stop="74721288" Strand="+"/>
<SequenceLocation Assembly="GRCh37" AssemblyAccessionVersion="GCF_000001405.25" AssemblyStatus="previous" Chr="5" Accession="NC_000005.9" start="73980968" stop="74017112" display_start="73980968" display_stop="74017112" Strand="+"/>
</Location>
<OMIM>606873</OMIM>
</Gene>
</GeneList>
<Name>HEXB, 18-BP INS</Name>
<VariantType>Insertion</VariantType>
<Location>
<CytogeneticLocation>5q13</CytogeneticLocation>
</Location>
<OtherNameList>
<Name>18-BP INS</Name>
</OtherNameList>
<XRefList>
<XRef Type="Allelic variant" ID="606873.0003" DB="OMIM"/>
</XRefList>
</SimpleAllele>
<ReviewStatus>no assertion criteria provided</ReviewStatus>
<RCVList>
<RCVAccession Title="HEXB, 18-BP INS AND Hexosaminidase B (paris)" DateLastEvaluated="1990-10-15" ReviewStatus="no assertion criteria provided" Interpretation="Pathogenic" SubmissionCount="1" Accession="RCV000004080" Version="2">
<InterpretedConditionList TraitSetID="1061">
<InterpretedCondition DB="MedGen" ID="C4016989">Hexosaminidase B (paris)</InterpretedCondition>
</InterpretedConditionList>
</RCVAccession>
</RCVList>
<Interpretations>
<Interpretation DateLastEvaluated="1990-10-15" NumberOfSubmissions="1" NumberOfSubmitters="1" Type="Clinical significance">
<Description>Pathogenic</Description>
<Citation Type="general">
<ID Source="PubMed">2170400</ID>
</Citation>
<Citation Type="general">
<ID Source="PubMed">868875</ID>
</Citation>
<ConditionList>
<TraitSet ID="1061" Type="Disease">
<Trait ID="10010" Type="Disease">
<Name>
<ElementValue Type="Preferred">Hexosaminidase B (paris)</ElementValue>
</Name>
<XRef ID="C4016989" DB="MedGen"/>
</Trait>
</TraitSet>
</ConditionList>
</Interpretation>
</Interpretations>
<ClinicalAssertionList>
<ClinicalAssertion ID="24246" DateCreated="2011-01-25" DateLastUpdated="2019-03-31" SubmissionDate="2010-12-30">
<ClinVarSubmissionID localKey="606873.0003_HEXOSAMINIDASE B (PARIS)" title="HEXB, 18-BP INS_HEXOSAMINIDASE B (PARIS)"/>
<ClinVarAccession Accession="SCV000024246" Type="SCV" Version="1" SubmitterName="OMIM" OrgID="3" OrganizationCategory="resource"/>
<RecordStatus>current</RecordStatus>
<ReviewStatus>no assertion criteria provided</ReviewStatus>
<Interpretation DateLastEvaluated="1990-10-15">
<Description>Pathogenic</Description>
</Interpretation>
<Assertion>variation to disease</Assertion>
<ObservedInList>
<ObservedIn>
<Sample>
<Origin>germline</Origin>
<Species>human</Species>
<AffectedStatus>not provided</AffectedStatus>
</Sample>
<Method>
<MethodType>literature only</MethodType>
</Method>
<ObservedData>
<Attribute Type="Description">Dreyfus et al. (1977) characterized a hexosaminidase variant that may represent unstable beta subunits. Dlott et al. (1990) demonstrated that this so-called 'hexosaminidase Paris' had an abnormally elongated beta subunit due to duplication of a region straddling the junction of intron 13 and exon 14, which generated an alternate splice site and caused an in-frame insertion of 18 nucleotides into the mRNA. The normal splice site seemed to be used to some extent, accounting for the residual Hex-A isoenzyme activity.</Attribute>
<Citation>
<ID Source="PubMed">868875</ID>
</Citation>
<Citation>
<ID Source="PubMed">2170400</ID>
</Citation>
</ObservedData>
</ObservedIn>
</ObservedInList>
<SimpleAllele>
<GeneList>
<Gene Symbol="HEXB"/>
</GeneList>
<Name>HEXB, 18-BP INS</Name>
<VariantType>Variation</VariantType>
<OtherNameList>
<Name Type="NonHGVS">18-BP INS</Name>
</OtherNameList>
<XRefList>
<XRef DB="OMIM" ID="606873.0003" Type="Allelic variant"/>
</XRefList>
</SimpleAllele>
<TraitSet Type="Disease">
<Trait Type="Disease">
<Name>
<ElementValue Type="Preferred">HEXOSAMINIDASE B (PARIS)</ElementValue>
</Name>
</Trait>
</TraitSet>
</ClinicalAssertion>
</ClinicalAssertionList>
<TraitMappingList>
<TraitMapping ClinicalAssertionID="24246" TraitType="Disease" MappingType="Name" MappingValue="HEXOSAMINIDASE B (PARIS)" MappingRef="Preferred">
<MedGen CUI="C4016989" Name="Hexosaminidase B (paris)"/>
</TraitMapping>
</TraitMappingList>
</InterpretedRecord>
</VariationArchive>
<VariationArchive VariationID="3883" VariationName="HEXB, PARTIAL DEL" VariationType="Deletion" DateCreated="2010-12-01" DateLastUpdated="2019-03-29" Accession="VCV000003883" Version="1" RecordType="interpreted" NumberOfSubmissions="1" NumberOfSubmitters="1">
<RecordStatus>current</RecordStatus>
<Species>Homo sapiens</Species>
<InterpretedRecord>
<SimpleAllele AlleleID="18922" VariationID="3883">
<GeneList>
<Gene Symbol="HEXB" FullName="hexosaminidase subunit beta" GeneID="3074" HGNC_ID="HGNC:4879" Source="submitted" RelationshipType="asserted, but not computed">
<Location>
<CytogeneticLocation>5q13.3</CytogeneticLocation>
<SequenceLocation Assembly="GRCh38" AssemblyAccessionVersion="GCF_000001405.38" AssemblyStatus="current" Chr="5" Accession="NC_000005.10" start="74640023" stop="74721288" display_start="74640023" display_stop="74721288" Strand="+"/>
<SequenceLocation Assembly="GRCh37" AssemblyAccessionVersion="GCF_000001405.25" AssemblyStatus="previous" Chr="5" Accession="NC_000005.9" start="73980968" stop="74017112" display_start="73980968" display_stop="74017112" Strand="+"/>
</Location>
<OMIM>606873</OMIM>
</Gene>
</GeneList>
<Name>HEXB, PARTIAL DEL</Name>
<VariantType>Deletion</VariantType>
<Location>
<CytogeneticLocation>5q13</CytogeneticLocation>
</Location>
<OtherNameList>
<Name>HEXB, PARTIAL DEL</Name>
<Name>PARTIAL DEL</Name>
</OtherNameList>
<XRefList>
<XRef Type="Allelic variant" ID="606873.0013" DB="OMIM"/>
</XRefList>
</SimpleAllele>
<ReviewStatus>no assertion criteria provided</ReviewStatus>
<RCVList>
<RCVAccession Title="HEXB, PARTIAL DEL AND Sandhoff disease, infantile type" DateLastEvaluated="1995-04-01" ReviewStatus="no assertion criteria provided" Interpretation="Pathogenic" SubmissionCount="1" Accession="RCV000004087" Version="2">
<InterpretedConditionList TraitSetID="1064">
<InterpretedCondition DB="MedGen" ID="C1849322">Sandhoff disease, infantile type</InterpretedCondition>
</InterpretedConditionList>
</RCVAccession>
</RCVList>
<Interpretations>
<Interpretation DateLastEvaluated="1995-04-01" NumberOfSubmissions="1" NumberOfSubmitters="1" Type="Clinical significance">
<Description>Pathogenic</Description>
<Citation Type="general">
<ID Source="PubMed">7633435</ID>
</Citation>
<ConditionList>
<TraitSet ID="1064" Type="Disease">
<Trait ID="8972" Type="Disease">
<Name>
<ElementValue Type="Preferred">Sandhoff disease, infantile type</ElementValue>
</Name>
<XRef ID="C1849322" DB="MedGen"/>
</Trait>
</TraitSet>
</ConditionList>
</Interpretation>
</Interpretations>
<ClinicalAssertionList>
<ClinicalAssertion ID="24253" DateCreated="2011-01-25" DateLastUpdated="2019-03-31" SubmissionDate="2010-12-30">
<ClinVarSubmissionID localKey="606873.0013_SANDHOFF DISEASE, INFANTILE TYPE" title="HEXB, PARTIAL DEL_SANDHOFF DISEASE, INFANTILE TYPE"/>
<ClinVarAccession Accession="SCV000024253" Type="SCV" Version="1" SubmitterName="OMIM" OrgID="3" OrganizationCategory="resource"/>
<RecordStatus>current</RecordStatus>
<ReviewStatus>no assertion criteria provided</ReviewStatus>
<Interpretation DateLastEvaluated="1995-04-01">
<Description>Pathogenic</Description>
</Interpretation>
<Assertion>variation to disease</Assertion>
<ObservedInList>
<ObservedIn>
<Sample>
<Origin>germline</Origin>
<Species>human</Species>
<AffectedStatus>not provided</AffectedStatus>
</Sample>
<Method>
<MethodType>literature only</MethodType>
</Method>
<ObservedData>
<Attribute Type="Description">See 606873.0012 and Zhang et al. (1995).</Attribute>
<Citation>
<ID Source="PubMed">7633435</ID>
</Citation>
</ObservedData>
</ObservedIn>
</ObservedInList>
<SimpleAllele>
<GeneList>
<Gene Symbol="HEXB"/>
</GeneList>
<Name>HEXB, PARTIAL DEL</Name>
<VariantType>Variation</VariantType>
<OtherNameList>
<Name Type="NonHGVS">PARTIAL DEL</Name>
</OtherNameList>
<XRefList>
<XRef DB="OMIM" ID="606873.0013" Type="Allelic variant"/>
</XRefList>
</SimpleAllele>
<TraitSet Type="Disease">
<Trait Type="Disease">
<Name>
<ElementValue Type="Preferred">SANDHOFF DISEASE, INFANTILE TYPE</ElementValue>
</Name>
</Trait>
</TraitSet>
</ClinicalAssertion>
</ClinicalAssertionList>
<TraitMappingList>
<TraitMapping ClinicalAssertionID="24253" TraitType="Disease" MappingType="Name" MappingValue="SANDHOFF DISEASE, INFANTILE TYPE" MappingRef="Preferred">
<MedGen CUI="C0751490" Name="Sandhoff disease, infantile"/>
</TraitMapping>
</TraitMappingList>
</InterpretedRecord>
</VariationArchive>
<VariationArchive VariationID="4788" VariationName="PRX, 1-BP DEL, 2787C" VariationType="Deletion" DateCreated="2010-12-01" DateLastUpdated="2019-03-29" Accession="VCV000004788" Version="1" RecordType="interpreted" NumberOfSubmissions="1" NumberOfSubmitters="1">
<RecordStatus>current</RecordStatus>
<Species>Homo sapiens</Species>
<InterpretedRecord>
<SimpleAllele AlleleID="19827" VariationID="4788">
<GeneList>
<Gene Symbol="PRX" FullName="periaxin" GeneID="57716" HGNC_ID="HGNC:13797" Source="submitted" RelationshipType="asserted, but not computed">
<Location>
<CytogeneticLocation>19q13.2</CytogeneticLocation>
<SequenceLocation Assembly="GRCh38" AssemblyAccessionVersion="GCF_000001405.38" AssemblyStatus="current" Chr="19" Accession="NC_000019.10" start="40393762" stop="40414718" display_start="40393762" display_stop="40414718" Strand="-"/>
<SequenceLocation Assembly="GRCh37" AssemblyAccessionVersion="GCF_000001405.25" AssemblyStatus="previous" Chr="19" Accession="NC_000019.9" start="40899670" stop="40919270" display_start="40899670" display_stop="40919270" Strand="-"/>
</Location>
<OMIM>605725</OMIM>
</Gene>
</GeneList>
<Name>PRX, 1-BP DEL, 2787C</Name>
<VariantType>Deletion</VariantType>
<Location>
<CytogeneticLocation>19q13.1-q13.2</CytogeneticLocation>
</Location>
<OtherNameList>
<Name>1-BP DEL, 2787C</Name>
</OtherNameList>
<XRefList>
<XRef Type="Allelic variant" ID="605725.0002" DB="OMIM"/>
</XRefList>
</SimpleAllele>
<ReviewStatus>no assertion criteria provided</ReviewStatus>
<RCVList>
<RCVAccession Title="PRX, 1-BP DEL, 2787C AND Autosomal recessive Dejerine-Sottas syndrome" DateLastEvaluated="2001-02-01" ReviewStatus="no assertion criteria provided" Interpretation="Pathogenic" SubmissionCount="1" Accession="RCV000005054" Version="3">
<InterpretedConditionList TraitSetID="2323">
<InterpretedCondition DB="MedGen" ID="CN069172">Autosomal recessive Dejerine-Sottas syndrome</InterpretedCondition>
</InterpretedConditionList>
</RCVAccession>
</RCVList>
<Interpretations>
<Interpretation DateLastEvaluated="2001-02-01" NumberOfSubmissions="1" NumberOfSubmitters="1" Type="Clinical significance">
<Description>Pathogenic</Description>
<Citation Type="general">
<ID Source="PubMed">11133365</ID>
</Citation>
<ConditionList>
<TraitSet ID="2323" Type="Disease">
<Trait ID="10445" Type="Disease">
<Name>
<ElementValue Type="Preferred">Autosomal recessive Dejerine-Sottas syndrome</ElementValue>
</Name>
<Name>
<ElementValue Type="Alternate">Autosomal recessive Dejerine-sottas neuropathy</ElementValue>
</Name>
<XRef ID="CN069172" DB="MedGen"/>
</Trait>
</TraitSet>
</ConditionList>
</Interpretation>
</Interpretations>
<ClinicalAssertionList>
<ClinicalAssertion ID="25230" DateCreated="2011-01-25" DateLastUpdated="2019-03-31" SubmissionDate="2010-12-30">
<ClinVarSubmissionID localKey="605725.0002_DEJERINE-SOTTAS NEUROPATHY, AUTOSOMAL RECESSIVE" title="PRX, 1-BP DEL, 2787C_DEJERINE-SOTTAS NEUROPATHY, AUTOSOMAL RECESSIVE"/>
<ClinVarAccession Accession="SCV000025230" Type="SCV" Version="2" SubmitterName="OMIM" OrgID="3" OrganizationCategory="resource"/>
<RecordStatus>current</RecordStatus>
<ReviewStatus>no assertion criteria provided</ReviewStatus>
<Interpretation DateLastEvaluated="2001-02-01">
<Description>Pathogenic</Description>
</Interpretation>
<Assertion>variation to disease</Assertion>
<ObservedInList>
<ObservedIn>
<Sample>
<Origin>germline</Origin>
<Species>human</Species>
<AffectedStatus>not provided</AffectedStatus>
</Sample>
<Method>
<MethodType>literature only</MethodType>
</Method>
<ObservedData>
<Attribute Type="Description">In a patient with autosomal recessive Dejerine-Sottas neuropathy (145900), Boerkoel et al. (2001) identified a 1-bp deletion in the PRX gene (2787delC) in compound heterozygous state; see 605725.0001. Boerkoel et al. (2001) identified the same mutation in homozygous state in a woman with autosomal recessive Dejerine-Sottas neuropathy. The parents were consanguineous; her son and 2 unaffected sisters were heterozygous for the same 1-bp deletion.</Attribute>
<Citation>
<ID Source="PubMed">11133365</ID>
</Citation>
<XRef DB="OMIM" ID="145900" Type="MIM"/>
</ObservedData>
</ObservedIn>
</ObservedInList>
<SimpleAllele>
<GeneList>
<Gene Symbol="PRX"/>
</GeneList>
<Name>PRX, 1-BP DEL, 2787C</Name>
<VariantType>Variation</VariantType>
<OtherNameList>
<Name Type="NonHGVS">1-BP DEL, 2787C</Name>
</OtherNameList>
<XRefList>
<XRef DB="OMIM" ID="605725.0002" Type="Allelic variant"/>
</XRefList>
</SimpleAllele>
<TraitSet Type="Disease">
<Trait Type="Disease">
<Name>
<ElementValue Type="Preferred">DEJERINE-SOTTAS NEUROPATHY, AUTOSOMAL RECESSIVE</ElementValue>
</Name>
</Trait>
</TraitSet>
</ClinicalAssertion>
</ClinicalAssertionList>
<TraitMappingList>
<TraitMapping ClinicalAssertionID="25230" TraitType="Disease" MappingType="Name" MappingValue="DEJERINE-SOTTAS NEUROPATHY, AUTOSOMAL RECESSIVE" MappingRef="Preferred">
<MedGen CUI="CN069172" Name="Autosomal recessive Dejerine-Sottas syndrome"/>
</TraitMapping>
</TraitMappingList>
</InterpretedRecord>
</VariationArchive>
<VariationArchive VariationID="4790" VariationName="PRX, 1-BP DEL, 2289T" VariationType="Deletion" DateCreated="2010-12-01" DateLastUpdated="2019-03-29" Accession="VCV000004790" Version="1" RecordType="interpreted" NumberOfSubmissions="1" NumberOfSubmitters="1">
<RecordStatus>current</RecordStatus>
<Species>Homo sapiens</Species>
<InterpretedRecord>
<SimpleAllele AlleleID="19829" VariationID="4790">
<GeneList>
<Gene Symbol="PRX" FullName="periaxin" GeneID="57716" HGNC_ID="HGNC:13797" Source="submitted" RelationshipType="asserted, but not computed">
<Location>
<CytogeneticLocation>19q13.2</CytogeneticLocation>
<SequenceLocation Assembly="GRCh38" AssemblyAccessionVersion="GCF_000001405.38" AssemblyStatus="current" Chr="19" Accession="NC_000019.10" start="40393762" stop="40414718" display_start="40393762" display_stop="40414718" Strand="-"/>
<SequenceLocation Assembly="GRCh37" AssemblyAccessionVersion="GCF_000001405.25" AssemblyStatus="previous" Chr="19" Accession="NC_000019.9" start="40899670" stop="40919270" display_start="40899670" display_stop="40919270" Strand="-"/>
</Location>
<OMIM>605725</OMIM>
</Gene>
</GeneList>
<Name>PRX, 1-BP DEL, 2289T</Name>
<VariantType>Deletion</VariantType>
<Location>
<CytogeneticLocation>19q13.1-q13.2</CytogeneticLocation>
</Location>
<OtherNameList>
<Name>1-BP DEL, 2289T</Name>
</OtherNameList>
<XRefList>
<XRef Type="Allelic variant" ID="605725.0004" DB="OMIM"/>
</XRefList>
</SimpleAllele>
<ReviewStatus>no assertion criteria provided</ReviewStatus>
<RCVList>
<RCVAccession Title="PRX, 1-BP DEL, 2289T AND Autosomal recessive Dejerine-Sottas syndrome" DateLastEvaluated="2001-02-01" ReviewStatus="no assertion criteria provided" Interpretation="Pathogenic" SubmissionCount="1" Accession="RCV000005056" Version="3">
<InterpretedConditionList TraitSetID="2323">
<InterpretedCondition DB="MedGen" ID="CN069172">Autosomal recessive Dejerine-Sottas syndrome</InterpretedCondition>
</InterpretedConditionList>
</RCVAccession>
</RCVList>
<Interpretations>
<Interpretation DateLastEvaluated="2001-02-01" NumberOfSubmissions="1" NumberOfSubmitters="1" Type="Clinical significance">
<Description>Pathogenic</Description>
<Citation Type="general">
<ID Source="PubMed">11133365</ID>
</Citation>
<ConditionList>
<TraitSet ID="2323" Type="Disease">
<Trait ID="10445" Type="Disease">
<Name>
<ElementValue Type="Preferred">Autosomal recessive Dejerine-Sottas syndrome</ElementValue>