Rare multisystem ciliopathy disorders
Gene: GAS8EnsemblGeneIds (GRCh38): ENSG00000141013
EnsemblGeneIds (GRCh37): ENSG00000141013
OMIM: 605178, Gene2Phenotype
GAS8 is in 7 panels
1 review
Alice Gardham (Genomics England)
Comment when marking as ready: primary ciliary dyskinesia not included on this panelCreated: 23 Jan 2017, 3:57 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Expert list
- Phenotypes
-
- Ciliary dyskinesia, primary, 33, 616726
- OMIM
- 605178
- Clinvar variants
- Variants in GAS8
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 by Alice Gardham on 26th January 2017
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
Upload gene information
Ellen McDonagh (Genomics England Curator)GAS8 was added to Rare multisystem ciliopathy disorderspanel. Sources: Radboud University Medical Center, Nijmegen
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for gene GAS8 were set to Ciliary dyskinesia, primary, 33, 616726
Added New Source
Ellen McDonagh (Genomics England Curator)GAS8 was added to Rare multisystem ciliopathy disorderspanel. Sources: Expert list
Created
Ellen McDonagh (Genomics England Curator)GAS8 was created by ellenmcdonagh