Primary ciliary disorders
Gene: GAS8
GAS8 (growth arrest specific 8)
EnsemblGeneIds (GRCh38): ENSG00000141013
EnsemblGeneIds (GRCh37): ENSG00000141013
OMIM: 605178, Gene2Phenotype
GAS8 is in 7 panels
EnsemblGeneIds (GRCh38): ENSG00000141013
EnsemblGeneIds (GRCh37): ENSG00000141013
OMIM: 605178, Gene2Phenotype
GAS8 is in 7 panels
2 reviews
Caroline Wright (Genomics England Curator)
Comment when marking as ready: Confirmed DD gene for PCDCreated: 10 May 2016, 9:38 a.m.
Comment on list classification: REF 26387594: Genome-wide exome sequence analyses identified recessive loss-of-function mutations in GAS8 encoding DRC4 in three independent PCD-affected families.Created: 10 May 2016, 9:36 a.m.
Hannah Mitchison (UCL and GOSH)
None found yetCreated: 8 Dec 2015, 4:25 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Too new - not yet linked to the PCD mutations publication
Publications
- PMID:26387594
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Too new - not yet linked to the PCD mutations publication
- OMIM
- 605178
- Clinvar variants
- Variants in GAS8
- Penetrance
- Complete
- Publications
-
- PMID:26387594
- Panels with this gene
History Filter Activity
10 May 2016, Gel status: 4
Gene classified by Genomics England curator
Caroline Wright (Genomics England Curator)This gene has been classified as Green List (High Evidence).
10 May 2016, Gel status: 4
Gene classified by Genomics England curator
Caroline Wright (Genomics England Curator)This gene has been classified as Green List (High Evidence).
8 Dec 2015, Gel status: 0
Created
Hannah Mitchison (UCL and GOSH)GAS8 was created by hmitchis
8 Dec 2015, Gel status: 0
Added New Source
Hannah Mitchison (UCL and GOSH)GAS8 was added to Primary ciliary disorderspanel. Sources: Expert Review