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Retinal disorders v8.39 PDE6H Achchuthan Shanmugasundram changed review comment from: There is only one homozygous PDE6H variant (p.Ser12Ter) reported to be identified from multiple unrelated individuals. Although this variant has been reported in three unrelated families with cone dysfunction, there are at least three other families reported with ncomplete achromatopsia, where limited clinical information was available and cone dysfunction was not reported.

The mouse model also failed to replicate the human phenotype.; to: There is only one homozygous PDE6H variant (p.Ser12Ter) reported to be identified from multiple unrelated individuals. Although this variant has been reported in three unrelated families with cone dysfunction, there are at least three other families reported with incomplete achromatopsia, where limited clinical information was available and cone dysfunction was not reported.

The mouse model also failed to replicate the human phenotype.
Retinal disorders v8.39 PDE6H Achchuthan Shanmugasundram Classified gene: PDE6H as Amber List (moderate evidence)
Retinal disorders v8.39 PDE6H Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Ronnie Wright, the rating for this gene should remain amber. This is because there is only one variant reported across multiple unrelated patients displaying phenotypic variability and without compelling functional evidence.
Retinal disorders v8.39 PDE6H Achchuthan Shanmugasundram Gene: pde6h has been classified as Amber List (Moderate Evidence).
Retinal disorders v8.38 PDE6H Achchuthan Shanmugasundram commented on gene: PDE6H: There is only one homozygous PDE6H variant (p.Ser12Ter) reported to be identified from multiple unrelated individuals. Although this variant has been reported in three unrelated families with cone dysfunction, there are at least three other families reported with ncomplete achromatopsia, where limited clinical information was available and cone dysfunction was not reported.

The mouse model also failed to replicate the human phenotype.
Retinal disorders v8.38 PDE6H Achchuthan Shanmugasundram Added comment: Comment on phenotypes: OMIM phenotype accessed on 09 September 2025.
Retinal disorders v8.38 PDE6H Achchuthan Shanmugasundram Phenotypes for gene: PDE6H were changed from Achromatopsia 6, OMIM:610024; achromatopsia 6, MONDO:0800197 to Achromatopsia 6, OMIM:610024; achromatopsia 6, MONDO:0800197
Retinal disorders v8.37 PDE6H Achchuthan Shanmugasundram Phenotypes for gene: PDE6H were changed from Retinal Cone Dystrophy 3, 610024; Achromatopsia 6, 610024; Eye Disorders; Achromatopsia, Cone, and Cone-rod Dystrophy to Achromatopsia 6, OMIM:610024; achromatopsia 6, MONDO:0800197
Retinal disorders v8.36 PDE6H Achchuthan Shanmugasundram Publications for gene: PDE6H were set to 15629837; 22901948; 25739440
Retinal disorders v8.35 PDE6H Achchuthan Shanmugasundram reviewed gene: PDE6H: Rating: AMBER; Mode of pathogenicity: None; Publications: 22901948, 25739440, 27472364, 35567543, 36980963; Phenotypes: Achromatopsia 6, OMIM:610024, achromatopsia 6, MONDO:0800197; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v8.28 PDE6H Ronnie Wright reviewed gene: PDE6H: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 22901948; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v1.159 PDE6H Gavin Arno reviewed gene: PDE6H: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.150 PDE6H Ivone Leong Publications for gene: PDE6H were set to 15629837
Retinal disorders v1.149 PDE6H Ivone Leong edited their review of gene: PDE6H: Added comment: 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.; Changed rating: AMBER; Changed publications: 22901948, 25739440; Changed phenotypes: Achromatopsia 6, 610024
Retinal disorders v1.137 PDE6H Ivone Leong Source NHS GMS was added to PDE6H.
Retinal disorders v1.133 PDE6H Ivone Leong Classified gene: PDE6H as Amber List (moderate evidence)
Retinal disorders v1.133 PDE6H Ivone Leong Added comment: 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.
Retinal disorders v1.133 PDE6H Ivone Leong Gene: pde6h has been classified as Amber List (Moderate Evidence).
Retinal disorders v1.132 PDE6H Ivone Leong Publications for gene: PDE6H were set to 15629837; 22901948
Retinal disorders v1.131 PDE6H Ivone Leong Publications for gene: PDE6H were set to 15629837
Retinal disorders v1.130 PDE6H Ivone Leong Publications for gene: PDE6H were set to
Retinal disorders v1.113 PDE6H Ivone Leong 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