Retinal disorders
Gene: PDE6H
PMID: 22901948 reported on 3 patients from 2 unrelated families (Dutch and Belgium) who have incomplete achromatopsia who also have the same variant in PDE6H (missense variant the causes a premature termination). Haplotype analysis for this region suggested that the variant may be from a founder effect.
PMID: 25739440 reported on a Pde6h knockout mouse model. However, the model failed to replicate the human phenotype as it appears that the mouse showed normal retinal tissue. The authors suggest "species-to-species differences in the vulnerability of biochemical and neurosensory pathways of the visual signal transduction system".
Taken together with my previous review, there is still currently not enough evidence to promote this gene to green status.Created: 29 Aug 2019, 12:15 p.m. | Last Modified: 29 Aug 2019, 12:15 p.m.
Panel Version: 1.149
Comment on list classification: Promoted from red to amber. PDE6H is associated with a phenotype in OMIM and is probably associated with a phenotype in Gene2Phenotype. There is currently only 1 case reporting on 2 siblings with retinal cone dystrophy who has a variant in PDE6H (PMID: 15629837). Therefore, there is currently not enough evidence to support promoting this gene to a green status.Created: 3 Apr 2019, 1:32 p.m.
Phenotypes
Achromatopsia 6, 610024
Publications
Publications for gene: PDE6H were set to 15629837
Source NHS GMS was added to PDE6H.
Gene: pde6h has been classified as Amber List (Moderate Evidence).
Publications for gene: PDE6H were set to 15629837; 22901948
Publications for gene: PDE6H were set to 15629837
Publications for gene: PDE6H were set to
Phenotypes for gene: PDE6H were changed from Retinal Cone Dystrophy; Achromatopsia 6; Retinal cone dystrophy 3; Eye Disorders; Achromatopsia, Cone, and Cone-rod Dystrophy to Retinal Cone Dystrophy 3, 610024; Achromatopsia 6, 610024; Eye Disorders; Achromatopsia, Cone, and Cone-rod Dystrophy
PDE6H was added to Posterior segment abnormalitiespanel. Sources: Expert Review Red
PDE6H was created by ellenmcdonagh