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 Red
Created: 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
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