Clefting
Gene: WASHC5
WASHC5 (WASH complex subunit 5)
EnsemblGeneIds (GRCh38): ENSG00000164961
EnsemblGeneIds (GRCh37): ENSG00000164961
OMIM: 610657, Gene2Phenotype
WASHC5 is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000164961
EnsemblGeneIds (GRCh37): ENSG00000164961
OMIM: 610657, Gene2Phenotype
WASHC5 is in 11 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
The new gene symbol for this gene is WASHC5.Created: 31 May 2017, 11:29 a.m.
Arianna Tucci (Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square)
One homozygous mutation identified in 8 patients of a large, genetically isolated population (24065355) with Ritscher-Schinzel 3C syndrome. None has cleft.Created: 31 May 2017, 11:25 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
RITSCHER-SCHINZEL SYNDROME 1; RTSC1
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- RITSCHER-SCHINZEL SYNDROME 1
- RTSC1
- OMIM
- 610657
- Clinvar variants
- Variants in WASHC5
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
5 Nov 2017, Gel status: 1
Changed Gene Name
GEL ()KIAA0196 was changed to WASHC5
5 Nov 2017, Gel status: 1
Removed Tag
GEL ()new-gene-name was removed from KIAA0196. Panel: Clefting
31 May 2017, Gel status: 1
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017
31 May 2017, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)KIAA0196 was added to Cleftingpanel. Sources: Expert Review Red
31 May 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)KIAA0196 was created by ellenmcdonagh