Hydrocephalus

Gene: WASHC5

Green List (high evidence)

WASHC5 (WASH complex subunit 5)
EnsemblGeneIds (GRCh38): ENSG00000164961
EnsemblGeneIds (GRCh37): ENSG00000164961
OMIM: 610657, Gene2Phenotype
WASHC5 is in 9 panels

3 reviews

Louise Daugherty (Genomics England Curator)

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 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

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)

Green List (high evidence)

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

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
610657
Clinvar variants
Variants in WASHC5
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Jul 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to WASHC5.

5 Nov 2017, Gel status: 4

Changed Gene Name

GEL ()

KIAA0196 was changed to WASHC5

5 Nov 2017, Gel status: 4

Removed Tag

GEL ()

new-gene-name was removed from KIAA0196. Panel: Hydrocephalus

31 May 2017, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

31.05.2017 - panel revised after internal curation and clinical review.

31 May 2017, Gel status: 4

Changed Gene Name

Ellen McDonagh (Genomics England Curator)

WASHC5* was changed to KIAA0196

30 May 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

9 May 2017, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

WASHC5* was added to Hydrocephaluspanel. Source: Expert Review Green

9 May 2017, Gel status: 0

Created

Helen Brittain (Genomics England Curator)

WASHC5* was created by helen.brittain

9 May 2017, Gel status: 0

Added New Source

Helen Brittain (Genomics England Curator)

WASHC5* was added to Hydrocephaluspanel. Sources: Literature