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DDG2P

Gene: PDE6H

Green List (high evidence)
PDE6H (phosphodiesterase 6H)
EnsemblGeneIds (GRCh38): ENSG00000139053
EnsemblGeneIds (GRCh37): ENSG00000139053
OMIM: 601190, Gene2Phenotype
PDE6H is in 5 panels

3 reviews

Ronnie Wright (North West GLH)

I don't know

Please see review(s) for this gene in the retinal disorders panel - https://panelapp.genomicsengland.co.uk/panels/307/gene/PDE6H/

I think this gene is applicable to the 'Eye' G2P group/panel but does not obviously fit the scope of the 'DD - developmental disorders' G2P group/panel - certainly in the context of R27 (Paediatric disorders) referrals/eligibility. This gene has not been associated with any disease other than ACHM6/RCD3.
Created: 19 Sep 2025, 1:52 p.m. | Last Modified: 19 Sep 2025, 1:52 p.m.
Panel Version: 6.5

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 19 Sep 2025, 1:52 p.m.
Last Modified: 19 Sep 2025, 1:52 p.m.
Panel version: 6.5

Achchuthan Shanmugasundram (Genomics England Curator)

I don't know

Comment on list classification: As reviewed by Ronnie Wright, this gene does not fit into the scope of developmental disorders, particularly in the context of R27 Paediatric disorders clinical indication. However, the DDG2P panel is not curated at Genomics England and is updated only to reflect the latest knowledge from the Gene2Phenotype resource (https://www.ebi.ac.uk/gene2phenotype/) Hence, the rating should stay green, pending updates from G2P.
Created: 10 Oct 2025, 9:27 a.m. | Last Modified: 13 Oct 2025, 2:18 p.m.
Panel Version: 6.8
The DDG2P confidence category for the disease RETINAL CONE DYSTROPHY 3 PDE6H, OMIM:610024 is strong. The allelic requirement and mutation consequence are biallelic_autosomal and 5_prime or 3_prime UTR mutation (PMIDs: 15629837;22901948). The DDG2P confidence category for the disease ACHROMATOPSIA is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMIDs: 27472364;22901948).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
ACHROMATOPSIA; RETINAL CONE DYSTROPHY 3 PDE6H, OMIM:610024

Publications

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 13 Oct 2025, 2:18 p.m.
Panel version: 6.5

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: probable (for all listed disorders). Multiple MOPs in DD-G2P download: 5_prime or 3_prime UTR mutation, loss of function.
Created: 19 Nov 2018, 11:30 a.m.
Created: 19 Nov 2018, 11:30 a.m.

Panel version: 0.2

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • DD-Gene2Phenotype
Phenotypes
  • RETINAL CONE DYSTROPHY 3 PDE6H 610024
  • ACHROMATOPSIA
OMIM
601190
Clinvar variants
Variants in PDE6H
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Oct 2025, Gel status: 3

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: pde6h has been classified as Green List (High Evidence).

4 Oct 2023, Gel status: 3

Added New Source, Set publications, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to PDE6H. Publications for gene: PDE6H were updated from 15629837; 22901948 to 27472364; 22901948; 15629837 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

29 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: probabl

19 Nov 2018, Gel status: 2

Set Phenotypes, Set publications

Rebecca Foulger (Genomics England curator)

Added phenotypes RETINAL CONE DYSTROPHY 3 PDE6H 610024 for gene: PDE6H Publications for gene PDE6H were changed from to 15629837; 22901948

19 Nov 2018, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: PDE6H was added gene: PDE6H was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: PDE6H was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PDE6H were set to ACHROMATOPSIA