Retinal disorders
Gene: PDE6BEnsemblGeneIds (GRCh38): ENSG00000133256
EnsemblGeneIds (GRCh37): ENSG00000133256
OMIM: 180072, Gene2Phenotype
PDE6B is in 3 panels
3 reviews
Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)
BRIDGE consortium (NIHRBR-RD)
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Night blindness, congenital stationary, autosomal dominant 2 (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown); Retinitis pigmentosa-40 (BIALLELIC, autosomal or pseudoautosomal)
Variants in this GENE are reported as part of current diagnostic practice
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.
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Night blindness, congenital stationary, autosomal dominant 2
- Retinitis pigmentosa 40
- Congenital Stationary Night Blindness, Dominant
- Congenital Stationary Night Blindness
- Night blindness, congenital stationary, autosomal dominant 2, 163500
- Retinitis pigmentosa
- Retinitis Pigmentosa, Recessive
- OMIM
- 180072
- Clinvar variants
- Variants in PDE6B
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set publications
Achchuthan Shanmugasundram (Genomics England Curator)Publications for gene: PDE6B were set to
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source NHS GMS was added to PDE6B. Rating Changed from Green List (high evidence) to Green List (high evidence)
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene PDE6B was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)PDE6B was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green
Created
Ellen McDonagh (Genomics England Curator)PDE6B was created by ellenmcdonagh