Achromatopsia
Gene: PDE6HEnsemblGeneIds (GRCh38): ENSG00000139053
EnsemblGeneIds (GRCh37): ENSG00000139053
OMIM: 601190, Gene2Phenotype
PDE6H is in 4 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Variants in this gene cause a spectrum of disorders along the retinal cone dystrophy/achromatopsia spectrum. Two families reported only with achromatopsia and bi-allelic variants.Created: 12 Sep 2020, 1:06 a.m. | Last Modified: 12 Sep 2020, 1:07 a.m.
Panel Version: 0.27
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Achromatopsia 6, MIM# 610024
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Achromatopsia 6 MIM#610024
- OMIM
- 601190
- Clinvar variants
- Variants in PDE6H
- 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: pde6h has been classified as Green List (High Evidence).
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: PDE6H were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: PDE6H was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: pde6h has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: PDE6H was added gene: PDE6H was added to Achromatopsia. Sources: Expert list Mode of inheritance for gene: PDE6H was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: PDE6H were set to Achromatopsia 6 MIM#610024