Heterotaxy
Gene: GAS8EnsemblGeneIds (GRCh38): ENSG00000141013
EnsemblGeneIds (GRCh37): ENSG00000141013
OMIM: 605178, Gene2Phenotype
GAS8 is in 6 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Heterotaxy is not part of the phenotype of this PCD in the individuals reported, though note zebrafish model had LR axis abnormalities.Created: 2 Jun 2020, 8 a.m. | Last Modified: 2 Jun 2020, 8:04 a.m.
Panel Version: 0.99
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ciliary dyskinesia, primary, 33, MIM# 616726
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Victorian Clinical Genetics Services
- Phenotypes
-
- Ciliary dyskinesia, primary, 33, MIM# 616726
- OMIM
- 605178
- Clinvar variants
- Variants in GAS8
- Penetrance
- None
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gas8 has been classified as Red List (Low Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: GAS8 were changed from to Ciliary dyskinesia, primary, 33, MIM# 616726
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: GAS8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gas8 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: GAS8 was added gene: GAS8 was added to Heterotaxy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: GAS8 was set to Unknown