Congenital nystagmus
Gene: CNGA3
CNGA3 (cyclic nucleotide gated channel alpha 3)
EnsemblGeneIds (GRCh38): ENSG00000144191
EnsemblGeneIds (GRCh37): ENSG00000144191
OMIM: 600053, Gene2Phenotype
CNGA3 is in 6 panels
EnsemblGeneIds (GRCh38): ENSG00000144191
EnsemblGeneIds (GRCh37): ENSG00000144191
OMIM: 600053, Gene2Phenotype
CNGA3 is in 6 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Well established gene-disease association, over 100 families reported. Characterized by photophobia, reduced visual acuity, nystagmus, and the complete inability to discriminate between colours. Electroretinographic recordings show that in achromatopsia the rod photoreceptor function is normal, whereas cone photoreceptor responses are absent.Created: 12 Sep 2020, 12:43 a.m. | Last Modified: 24 Oct 2021, 6:26 a.m.
Panel Version: 0.23
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Achromatopsia 2, MIM# 216900
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Achromatopsia 2 MIM#216900
- OMIM
- 600053
- Clinvar variants
- Variants in CNGA3
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
24 Oct 2021, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cnga3 has been classified as Green List (High Evidence).
6 Oct 2021, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: CNGA3 was added gene: CNGA3 was added to Congenital nystagmus. Sources: Expert Review Green,Expert list Mode of inheritance for gene: CNGA3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CNGA3 were set to 9662398; 17265047; 11536077 Phenotypes for gene: CNGA3 were set to Achromatopsia 2 MIM#216900