Congenital Stationary Night Blindness
Gene: GPR179EnsemblGeneIds (GRCh38): ENSG00000277399
EnsemblGeneIds (GRCh37): ENSG00000188888
OMIM: 614515, Gene2Phenotype
GPR179 is in 5 panels
1 review
Kristin Rigbye (Victorian Clinical Genetics Services)
Multiple families reported with recessive loss of function variants.Created: 19 Jan 2021, 1:06 a.m. | Last Modified: 19 Jan 2021, 1:06 a.m.
Panel Version: 0.7
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Night blindness, congenital stationary (complete), 1E, autosomal recessive (MIM#614565)
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Phenotypes
-
- Night blindness, congenital stationary (complete), 1E, autosomal recessive, 614565
- OMIM
- 614515
- Clinvar variants
- Variants in GPR179
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gpr179 has been classified as Green List (High Evidence).
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: GPR179 were set to
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: GPR179 was added gene: GPR179 was added to Congenital Stationary Night Blindness_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: GPR179 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GPR179 were set to Night blindness, congenital stationary (complete), 1E, autosomal recessive, 614565