Retinal disorders
Gene: CNGA1EnsemblGeneIds (GRCh38): ENSG00000198515
EnsemblGeneIds (GRCh37): ENSG00000198515
OMIM: 123825, Gene2Phenotype
CNGA1 is in 3 panels
5 reviews
Eleanor Williams (Genomics England Curator)
The mode of inheritance of this gene has been updated to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.Created: 26 Sep 2024, 3:50 p.m. | Last Modified: 26 Sep 2024, 3:50 p.m.
Panel Version: 6.7
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Arina Puzriakova (Genomics England Curator)
Comment on mode of inheritance: Should be updated from 'both mono- and biallelic' to 'biallelic' only at the next GMS panel update - could not find any evidence to suggest that heterozygous variants can lead to disease. Family members of patients that are heterozygous carriers are unaffected.Created: 20 Feb 2024, 3:55 p.m. | Last Modified: 20 Feb 2024, 3:55 p.m.
Panel Version: 4.70
Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)
BRIDGE consortium (NIHRBR-RD)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Retinitis pigmentosa 49
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
This gene is on the Manchester Genetic Retinal Degeneration Conditions panel (covers known genes for isolated progessive retinal degeneration, Leber congenital amaurosis, macular dystrophy, achromatopsia, congenital stationary night blindness as well as the two most common causes of syndromic blindess Usher and Bardet-Biedl syndromes and additional syndromes including Joubert, Senior-Loken, and Cohen syndrome.Created: 2 Jun 2016, 8:04 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Retinitis pigmentosa 49, OMIM:613756
- OMIM
- 123825
- Clinvar variants
- Variants in CNGA1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Removed Tag
Sarah Leigh (Genomics England Curator)Tag Q1_24_MOI was removed from gene: CNGA1.
Set mode of inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for gene CNGA1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: CNGA1 were set to
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: CNGA1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added Tag
Arina Puzriakova (Genomics England Curator)Tag Q1_24_MOI tag was added to gene: CNGA1.
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: CNGA1 were changed from Retinitis pigmentosa 49, RP49 (AR); Eye Disorders; Retinitis pigmentosa; Retinitis Pigmentosa, Recessive; Retinitis pigmentosa 49, 613756 to Retinitis pigmentosa 49, OMIM:613756
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source NHS GMS was added to CNGA1. Rating Changed from Green List (high evidence) to Green List (high evidence)
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Created
Ellen McDonagh (Genomics England Curator)CNGA1 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)CNGA1 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green