Hydrocephalus

Gene: WDR81

I don't know

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

Phenotypes
congenital hydrocephalus

Publications

• 28556411