1. Panels
  2. Newborns main panel
  3. GAS8
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Newborns main panel

Gene: GAS8

Green List (high evidence)
GAS8 (growth arrest specific 8)
EnsemblGeneIds (GRCh38): ENSG00000141013
EnsemblGeneIds (GRCh37): ENSG00000141013
OMIM: 605178, Gene2Phenotype
GAS8 is in 7 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol for GAS8 is DRC4
Created: 31 Dec 2025, 3:27 p.m. | Last Modified: 31 Dec 2025, 3:27 p.m.
Panel Version: 0.499
Created: 31 Dec 2025, 3:27 p.m.
Last Modified: 31 Dec 2025, 3:27 p.m.
Panel version: 0.499

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
PMID: 26387594 - 3 cases PMID: 27120127 - 2 cases
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ciliary dyskinesia, primary, 33
Tags
new-gene-name
OMIM
605178
Clinvar variants
Variants in GAS8
Penetrance
None
Panels with this gene

History Filter Activity

31 Dec 2025, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag new-gene-name tag was added to gene: GAS8.

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Ciliary dyskinesia, primary, 33 for gene: GAS8

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to GAS8. Added phenotypes Ciliary dyskinesia, primary, 33 for gene: GAS8 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

1 Jun 2023, Gel status: 2

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Phenotypes for gene: GAS8 were changed from Ciliary dyskinesia, primary, 33 to Ciliary dyskinesia, primary, 33

1 Jun 2023, Gel status: 2

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Phenotypes for gene: GAS8 were changed from 10; Ciliary dyskinesia, primary, 33 to Ciliary dyskinesia, primary, 33

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to GAS8. Added phenotypes Ciliary dyskinesia, primary, 33 for gene: GAS8 Rating Changed from No List (delete) to Amber List (moderate evidence)

27 Mar 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Mafalda Gomes (Genomics England Curator)

gene: GAS8 was added gene: GAS8 was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: GAS8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GAS8 were set to 10