Holoprosencephaly and septo-optic dysplasia
Gene: GAS1EnsemblGeneIds (GRCh38): ENSG00000180447
EnsemblGeneIds (GRCh37): ENSG00000180447
OMIM: 139185, Gene2Phenotype
GAS1 is in 3 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
5 unrelated individuals with HPE phenotype and novel missense variants reported in 21842183 with some functional data; however, note that 2 of the variants (L6V and G320C) were predicted to be benign, 4 of the 5 variants were inherited from an unaffected parent, and 1 patient had an additional pathogenic mutation in the SHH gene. Other reported variants are present in gnomad.Created: 21 Jan 2020, 10:51 p.m. | Last Modified: 21 Jan 2020, 10:51 p.m.
Panel Version: 0.8
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Holoprosencephaly
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Victorian Clinical Genetics Services
- Phenotypes
-
- Holoprosencephaly
- OMIM
- 139185
- Clinvar variants
- Variants in GAS1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: GAS1 were changed from Holoprosencephaly to Holoprosencephaly
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gas1 has been classified as Red List (Low Evidence).
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: GAS1 were set to
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: GAS1 were changed from to Holoprosencephaly
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: GAS1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gas1 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: GAS1 was added gene: GAS1 was added to Holoprosencephaly and septo-optic dysplasia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: GAS1 was set to Unknown