rs730882206
This is a variant in the WDR81 gene that changes a glycine to an glutamate.
▶ClinVar annotation
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 (CAMRQ2); Hydranencephaly; Hydrocephalus, congenital, 3, with brain anomalies; Neonatal death; Severe brain malformation; Severe cerebellar hypoplasia
View on ClinVar →About WDR81
This gene encodes a multi-domain transmembrane protein which is predominantly expressed in the brain and is thought to play a role in endolysosomal trafficking. Mutations in this gene are associated with an autosomal recessive form of a syndrome exhibiting cerebellar ataxia, cognitive disability, and disequilibrium (CAMRQ2). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]
View all WDR81 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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