Glaucoma (developmental)
Gene: CNGA1EnsemblGeneIds (GRCh38): ENSG00000198515
EnsemblGeneIds (GRCh37): ENSG00000198515
OMIM: 123825, Gene2Phenotype
CNGA1 is in 3 panels
2 reviews
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)
retinal gene, can't find any evidence that it is associated with structural eye diseaseCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Retinitis pigmentosa 49; 613756
Ivone Leong (Genomics England Curator)
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). retinal gene, can't find any evidence that it is associated with structural eye diseaseCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Retinitis pigmentosa 49, 613756
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Emory Genetics Laboratory
- Phenotypes
-
- Retinitis pigmentosa 49, OMIM:613756
- OMIM
- 123825
- Clinvar variants
- Variants in CNGA1
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: CNGA1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: CNGA1 were changed from Eye Disorders to Retinitis pigmentosa 49, OMIM:613756
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)27/04/2017: Revised after review and further curation, with clinical input, and promoted to version 1.
Added New Source
Eik Haraldsdottir (Genomics England)CNGA1 was added to Glaucoma (developmental)panel. Sources: Emory Genetics Laboratory