Hydrocephalus
Gene: WDR81
As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene RedCreated: 29 Jul 2019, 2:49 p.m. | Last Modified: 29 Jul 2019, 2:49 p.m.
Panel Version: 1.34
Comment on list classification: Kept rating as Red but added 'Watchlist' tag: 2 unrelated consanguineous families reported in PMID:28556411 with severe hydrocephalus, expanding the phenotypes previously reported for WDR81. Further cases are required to support causation and rate as diagnostic-grade.Created: 12 Oct 2017, 12:50 p.m.
Added WDR81 to 'Hydrocephalus' panel based on PMID:28556411 (Shaheen et al., 2017) who found WDR81 variants in 2 families with severe congenital hydrocephalus.
Family 13 is a consanguineous couple who lost 2 pregnancies with severe hydrocephalus and cerebellar hypoplasia: a homozygous truncating mutation was identified in WDR81 (NM_001163809.1: c.3286C>T, p. [Gln1096*]).
Family 26 consists of a consanguineous couple with history of stillburth with massive hydrocephalus and absent cerebellum and a male neonate with severe hydrocephalus and Dandy–Walker malformation. A homozygous missense variant in WDR81 was identified (NM_001163809.1:c.845G>A, p. [Gly282Glu]).Created: 12 Oct 2017, 12:48 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
congenital hydrocephalus
Publications
Source NHS GMS was added to WDR81.
This gene has been classified as Red List (Low Evidence).
WDR81 was added to Hydrocephaluspanel. Sources: Literature
WDR81 was created by rfoulger