Retinal disorders
Gene: GUCY2DEnsemblGeneIds (GRCh38): ENSG00000132518
EnsemblGeneIds (GRCh37): ENSG00000132518
OMIM: 600179, Gene2Phenotype
GUCY2D is in 8 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
Cone-rod dystrophy 6 (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown); Leber congenital amaurosis 1 (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, 8:04 a.m.
UKGTN source has Cone-rod dystrophy 6 as autosomal dominant, Leber congenital amaurosis 1 as autosomal recessive.Created: 26 Apr 2016, 12:42 p.m.
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Achromatopsia, Cone, and Cone-rod Dystrophy
- Cone-rod dystrophy 6 (AD)
- Leber congenital amaurosis 1 (AR)
- Leber congenital amaurosis 1, 204000
- Eye Disorders
- Retinitis pigmentosa
- OMIM
- 600179
- Clinvar variants
- Variants in GUCY2D
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source NHS GMS was added to GUCY2D. 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).
Created
Ellen McDonagh (Genomics England Curator)GUCY2D was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)GUCY2D was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green