Hereditary neuropathy
Gene: WASHC5EnsemblGeneIds (GRCh38): ENSG00000164961
EnsemblGeneIds (GRCh37): ENSG00000164961
OMIM: 610657, Gene2Phenotype
WASHC5 is in 11 panels
5 reviews
Natalie Forrester (SWGLH - Bristol Genetics)
Unable to find any evidence of clear neuropathy association. PMID: 27164712 - panel report, no detailsCreated: 29 Apr 2019, 12:30 p.m.
Phenotypes
Hereditary Neuropathies
Publications
Rita Horvath (Institute of Genetic Medicine, Newcastle University)
Louise Daugherty (Genomics England Curator)
Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.Created: 29 Apr 2019, 12:53 p.m.
added new-gene-name tagCreated: 9 Dec 2016, 5:03 p.m.
Alexander Rossor (UCL Institute of Neurology)
Not a CMT geneCreated: 9 Dec 2015, 8:49 a.m.
Mary Reilly (Institute of Neurology)
Not a CMT geneCreated: 8 Dec 2015, 3:06 p.m.
Details
- Sources
-
- NHS GMS
- South West GLH
- Emory Genetics Laboratory
- Phenotypes
-
- Hereditary Neuropathies
- OMIM
- 610657
- Clinvar variants
- Variants in WASHC5
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes, Set publications
Louise Daugherty (Genomics England Curator)Added phenotypes Hereditary Neuropathies for gene: WASHC5 Publications for gene WASHC5 were changed from to 27164712
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to WASHC5.
Added New Source
Louise Daugherty (Genomics England Curator)Source South West GLH was added to WASHC5.
Changed Gene Name
GEL ()KIAA0196 was changed to WASHC5
Removed Tag
GEL ()new-gene-name was removed from KIAA0196. Panel: Charcot-Marie-Tooth disease
Added New Source
Ellen McDonagh (Genomics England Curator)KIAA0196 was added to Charcot-Marie-Tooth diseasepanel. Sources: Emory Genetics Laboratory