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GENE - TERM ANNOTATION REPORT

CRRD ID: 11906484
Species: Pan paniscus
CRRD Object: Gene
Symbol: WDR62
Name: WD repeat domain 62
Acc ID: DOID:0070293
Term: primary autosomal recessive microcephaly 2 with or without cortical malformations
Definition: A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the WDR62 gene on chromosome 19q13. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/20890279
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
WDR62 ISSRGD:13154899068941CRRDDNA:insertion, nonsense mutations:exons:c.535_536insA, c.900C>A(p.C300X)(human)

PMID:21496009, REF_RGD_ID:11537472
WDR62 ISSRGD:13154899068941CRRDDNA:mutation:cds:c.390G > A(human)

PMID:26577670, REF_RGD_ID:11537473
WDR62 ISSRGD:13154899068941CRRDDNA:nonsense, insertion, missense mutations:cds:c.1942 C>T, c.3936_3937insC, c.1313G>A, c.1531G>A(human)

PMID:21961505, REF_RGD_ID:11537475
WDR62 ISORGD:13154897240710OMIM  
WDR62 ISSRGD:13154899068941ClinVarClinVar Annotator: match by term: Primary autosomal recessive microcephaly 2

PMID:10573015, PMID:20890279
WDR62 ISSRGD:13154899068941ClinVarClinVar Annotator: match by term: Primary autosomal recessive microcephaly 2

PMID:18414213
WDR62 ISSRGD:13154899068941ClinVarClinVar Annotator: match by term: Primary autosomal recessive microcephaly 2

PMID:18414213, PMID:20729831, PMID:20890278, PMID:20890279, PMID:21834044, PMID:28386937
WDR62 ISSRGD:13154899068941ClinVarClinVar Annotator: match by term: Primary autosomal recessive microcephaly 2

PMID:18414213, PMID:25741868, PMID:26467025, PMID:28492532
WDR62 ISSRGD:13154899068941ClinVarClinVar Annotator: match by term: Primary autosomal recessive microcephaly 2

PMID:18414213, PMID:26467025
WDR62 ISSRGD:13154899068941ClinVarClinVar Annotator: match by term: Primary autosomal recessive microcephaly 2

PMID:20729831
WDR62 ISSRGD:13154899068941ClinVarClinVar Annotator: match by term: Primary autosomal recessive microcephaly 2

PMID:20729831, PMID:25741868
WDR62 ISSRGD:13154899068941ClinVarClinVar Annotator: match by term: Primary autosomal recessive microcephaly 2

PMID:20890278
WDR62 ISSRGD:13154899068941ClinVarClinVar Annotator: match by term: Primary autosomal recessive microcephaly 2

PMID:20890278, PMID:20890279
WDR62 ISSRGD:13154899068941ClinVarClinVar Annotator: match by term: Primary autosomal recessive microcephaly 2

PMID:20890279
WDR62 ISSRGD:13154899068941ClinVarClinVar Annotator: match by term: Primary autosomal recessive microcephaly 2

PMID:21834044
WDR62 ISSRGD:13154899068941ClinVarClinVar Annotator: match by term: Primary autosomal recessive microcephaly 2

PMID:25741868, PMID:28492532
WDR62 ISSRGD:13154899068941ClinVarClinVar Annotator: match by term: Primary autosomal recessive microcephaly 2

PMID:26077850, PMID:28377545
WDR62 ISSRGD:13154899068941ClinVarClinVar Annotator: match by term: Primary Microcephaly 2 With or Without Cortical Malformations

 
WDR62 ISSRGD:13154899068941ClinVarClinVar Annotator: match by term: Primary Microcephaly 2 With or Without Cortical Malformations

PMID:18414213, PMID:25741868
WDR62 ISSRGD:13154899068941ClinVarClinVar Annotator: match by term: Primary Microcephaly 2 With or Without Cortical Malformations

PMID:18414213, PMID:25741868, PMID:26467025
WDR62 ISSRGD:13154899068941ClinVarClinVar Annotator: match by term: Primary Microcephaly 2 With or Without Cortical Malformations

PMID:18414213, PMID:26467025, PMID:28492532
WDR62 ISSRGD:13154899068941ClinVarClinVar Annotator: match by term: Primary Microcephaly 2 With or Without Cortical Malformations

PMID:18414213, PMID:28492532
WDR62 ISSRGD:13154899068941ClinVarClinVar Annotator: match by term: Primary Microcephaly 2 With or Without Cortical Malformations

PMID:25741868
WDR62 ISSRGD:13154899068941ClinVarClinVar Annotator: match by term: Primary Microcephaly 2 With or Without Cortical Malformations

PMID:25741868, PMID:26467025
WDR62 ISSRGD:13154899068941ClinVarClinVar Annotator: match by term: Primary Microcephaly 2 With or Without Cortical Malformations

PMID:25741868, PMID:26467025, PMID:28492532
WDR62 ISSRGD:13154899068941ClinVarClinVar Annotator: match by term: Primary Microcephaly 2 With or Without Cortical Malformations

PMID:28492532
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.