Hydrocephalus
Gene: WASHC5EnsemblGeneIds (GRCh38): ENSG00000164961
EnsemblGeneIds (GRCh37): ENSG00000164961
OMIM: 610657, Gene2Phenotype
WASHC5 is in 11 panels
3 reviews
Louise Daugherty (Genomics England Curator)
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 GreenCreated: 29 Jul 2019, 2:49 p.m. | Last Modified: 29 Jul 2019, 2:49 p.m.
Panel Version: 1.34
Ellen McDonagh (Genomics England Curator)
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.
Helen Brittain (Genomics England Curator)
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 causativeCreated: 9 May 2017, 1:23 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ritscher-Schinzel syndrome 1
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Literature
- Phenotypes
-
- Ritscher-Schinzel syndrome 1, OMIM:220210
- OMIM
- 610657
- Clinvar variants
- Variants in WASHC5
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: WASHC5 were changed from Ritscher-Schinzel syndrome 1 to Ritscher-Schinzel syndrome 1, OMIM:220210
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to WASHC5.
Changed Gene Name
GEL ()KIAA0196 was changed to WASHC5
Removed Tag
GEL ()new-gene-name was removed from KIAA0196. Panel: Hydrocephalus
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)31.05.2017 - panel revised after internal curation and clinical review.
Changed Gene Name
Ellen McDonagh (Genomics England Curator)WASHC5* was changed to KIAA0196
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)WASHC5* was added to Hydrocephaluspanel. Source: Expert Review Green
Created
Helen Brittain (Genomics England Curator)WASHC5* was created by helen.brittain
Added New Source
Helen Brittain (Genomics England Curator)WASHC5* was added to Hydrocephaluspanel. Sources: Literature