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VARIANT - TERM ANNOTATION REPORT

RGD ID: 8557841
Species: Homo sapiens
RGD Object: Variant
Symbol: CV19037
Name: NM_017739.4(POMGNT1):c.1814G>C (p.Arg605Pro)
Acc ID: DOID:0050560
Term: Walker-Warburg syndrome
Definition: A congenital muscular dystrophy that is characterized by hypotonia, seizures, severe intellectual and developmental disability, eye abnormalities and early death and has_material_basis_in mutations in multiple genes including POMT1, POMT2, ISPD, FKTN, FKRP, and LARGE1. (DO)
Definition Source(s): https://ghr.nlm.nih.gov/condition/walker-warburg-syndrome "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)
CV19037 IAGP 8554872ClinVarClinVar Annotator: match by term: Muscle eye brain diseasePMID:19299310 PMID:19679478 PMID:21361872 PMID:23689641 PMID:24731844 PMID:25741868 PMID:28492532
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