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GENE - TERM ANNOTATION REPORT

RGD ID: 12514773
Species: Ictidomys tridecemlineatus
RGD Object: Gene
Symbol: Wipi2
Name: WD repeat domain, phosphoinositide interacting 2
Acc ID: DOID:0081112
Term: Baraitser-Winter syndrome 1
Definition: A Baraitser-Winter syndrome that has_material_basis_in heterozygous mutation in the ACTB gene on chromosome 7p22. A subset of patients have a larger deletion of chromosome 7p22 including the ACTB gene and additional variable genes, consistent with a contiguous gene deletion syndrome. (DO)
Definition Source(s): PMID:29220674 "DO" "DO"
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)
Wipi2 ISOWIPI2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Baraitser-Winter syndrome 1PMID:27633570 PMID:28128450 PMID:28492532 PMID:31898838
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