As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green
Created: 29 Jul 2019, 2:49 p.m. | Last Modified: 29 Jul 2019, 2:49 p.m.
Panel Version: 1.34
The new gene symbol for this gene is WASHC5 (http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=HGNC:28984).
Created: 31 May 2017, 9:56 a.m.
Several cases ascertained in native Canadian population. Single mutation only. Hydrocephalus or ventricular dilatation commonly reported. Monoallelic mutations are reported with hereditary spastic paraplegia, however for this diagnosis biallelic mutations are causative
Created: 9 May 2017, 1:23 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Ritscher-Schinzel syndrome 1
Source NHS GMS was added to WASHC5.
KIAA0196 was changed to WASHC5
new-gene-name was removed from KIAA0196. Panel: Hydrocephalus
31.05.2017 - panel revised after internal curation and clinical review.
WASHC5* was changed to KIAA0196
This gene has been classified as Green List (High Evidence).
WASHC5* was added to Hydrocephaluspanel. Source: Expert Review Green
WASHC5* was added to Hydrocephaluspanel. Sources: Literature
WASHC5* was created by helen.brittain