Achromatopsia
Gene: CNGB3
CNGB3 (cyclic nucleotide gated channel beta 3)
EnsemblGeneIds (GRCh38): ENSG00000170289
EnsemblGeneIds (GRCh37): ENSG00000170289
OMIM: 605080, Gene2Phenotype
CNGB3 is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000170289
EnsemblGeneIds (GRCh37): ENSG00000170289
OMIM: 605080, Gene2Phenotype
CNGB3 is in 10 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Well established gene-disease association. The c.1148delC is a common founder variant in the Pingelapese.Created: 12 Sep 2020, 12:52 a.m. | Last Modified: 12 Sep 2020, 12:52 a.m.
Panel Version: 0.22
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Achromatopsia 3, MIM# 262300
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Achromatopsia 3 MIM#262300
- OMIM
- 605080
- Clinvar variants
- Variants in CNGB3
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
12 Sep 2020, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cngb3 has been classified as Green List (High Evidence).
12 Sep 2020, Gel status: 3
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: CNGB3 were set to
25 May 2020, Gel status: 3
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: cngb3 has been classified as Green List (High Evidence).
25 May 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: CNGB3 was added gene: CNGB3 was added to Achromatopsia. Sources: Expert list Mode of inheritance for gene: CNGB3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CNGB3 were set to Achromatopsia 3 MIM#262300