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Retinal disorders

Gene: PDE6A

Green List (high evidence)
PDE6A (phosphodiesterase 6A)
EnsemblGeneIds (GRCh38): ENSG00000132915
EnsemblGeneIds (GRCh37): ENSG00000132915
OMIM: 180071, Gene2Phenotype
PDE6A is in 3 panels

2 reviews

Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)

Green List (high evidence)

Created: 30 Aug 2019, 2:12 p.m.
Last Modified: 30 Aug 2019, 2:12 p.m.
Panel version: 1.159

Ellen McDonagh (Genomics England Curator)

This gene is on the Manchester Genetic Retinal Degeneration Conditions panel (covers known genes for isolated progessive retinal degeneration, Leber congenital amaurosis, macular dystrophy, achromatopsia, congenital stationary night blindness as well as the two most common causes of syndromic blindess Usher and Bardet-Biedl syndromes and additional syndromes including Joubert, Senior-Loken, and Cohen syndrome.
Created: 2 Jun 2016, 8:05 a.m.
Created: 2 Jun 2016, 8:05 a.m.

Panel version: 0.201

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Retinitis pigmentosa 43
  • Eye Disorders
  • Retinitis pigmentosa
  • Retinitis Pigmentosa, Recessive
  • Retinitis pigmentosa 43, 613810
OMIM
180071
Clinvar variants
Variants in PDE6A
Penetrance
Complete
Panels with this gene

History Filter Activity

3 Apr 2019, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to PDE6A. Rating Changed from Green List (high evidence) to Green List (high evidence)

22 Mar 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

9 Mar 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene PDE6A was set to BIALLELIC, autosomal or pseudoautosomal

9 Mar 2016, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

PDE6A was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green

9 Mar 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

PDE6A was created by ellenmcdonagh