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Retinal disorders

Gene: CNGB3

Green List (high evidence)

CNGB3 (cyclic nucleotide gated channel beta 3)
EnsemblGeneIds (GRCh38): ENSG00000170289
EnsemblGeneIds (GRCh37): ENSG00000170289
OMIM: 605080, Gene2Phenotype
CNGB3 is in 6 panels

3 reviews

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

Green List (high evidence)

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Achromatopsia-3; Macular degeneration, juvenile

Variants in this GENE are reported as part of current diagnostic practice

Ellen McDonagh (Genomics England Curator)

Added the tag ‘gene-therapy-trial’ as this gene is within the Gene Therapy Panel available here: https://panelapp.genomicsengland.co.uk/panels/412
Created: 14 May 2018, 9:32 a.m.
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, 8:04 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Achromatopsia
  • Macular degeneration, juvenile
  • Achromatopsia-3, 262300
  • Macular degeneration, juvenile, 248200 -3
  • Stargardt Disease, Recessive
  • Macular Dystrophy/Degeneration/Stargardt Disease
  • Achromatopsia-3
  • Eye Disorders
  • Achromatopsia, Cone, and Cone-rod Dystrophy
Tags
gene-therapy-trial
OMIM
605080
Clinvar variants
Variants in CNGB3
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 CNGB3. 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: 0

Created

Ellen McDonagh (Genomics England Curator)

CNGB3 was created by ellenmcdonagh

9 Mar 2016, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

CNGB3 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green