Respiratory ciliopathies including non-CF bronchiectasis
Gene: GAS8EnsemblGeneIds (GRCh38): ENSG00000141013
EnsemblGeneIds (GRCh37): ENSG00000141013
OMIM: 605178, Gene2Phenotype
GAS8 is in 7 panels
4 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
The 'new-gene-name' tag has been added as the official HGNC gene symbol for GAS8 is DRC4.Created: 28 Apr 2025, 11:23 a.m. | Last Modified: 28 Apr 2025, 11:23 a.m.
Panel Version: 3.37
Louise Daugherty (Genomics England Curator)
Initial gene list and info collated by Ian Berry Leeds Genetics Laboratory November 2018 on behalf of the GMS Respiratory specialist test group. Gene Symbol submitted: GAS8; Suggested initial gene rating: Green; Evidence for inclusion: OMIM PCD gene or intersection of >2 panels; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none givenCreated: 5 Dec 2018, 1:54 p.m.
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
- NHS GMS
- Tags
- OMIM
- 605178
- Clinvar variants
- Variants in GAS8
- Penetrance
- None
- Panels with this gene
History Filter Activity
Added Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag new-gene-name tag was added to gene: GAS8.
Set mode of inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene GAS8 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source Expert Review Green was added to GAS8. Rating Changed from Red List (low evidence) to Green List (high evidence)
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: GAS8 was added gene: GAS8 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS Mode of inheritance for gene: GAS8 was set to