Retinal disorders
Gene: GUCA1B

GUCA1B (guanylate cyclase activator 1B)
EnsemblGeneIds (GRCh38): ENSG00000112599
EnsemblGeneIds (GRCh37): ENSG00000112599
OMIM: 602275, Gene2Phenotype
GUCA1B is in 3 panels

3 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, 8:06 a.m.

Created: 2 Jun 2016, 8:06 a.m.

Panel version: 0.201

Simon Ramsden (NHS)

Green List (high evidence)

Small number of publications. Convincing association
Created: 1 Jun 2016, 10:16 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
RP

Publications

PMID: 15452722

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

Created: 1 Jun 2016, 10:16 a.m.

Panel version: 0.173

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

NHS GMS
Expert Review Green

Phenotypes

Macular Dystrophy/Degeneration/Stargardt Disease
Eye Disorders
Retinitis Pigmentosa, Dominant
Retinitis pigmentosa
Retinitis pigmentosa 48, 613827

OMIM

602275

Clinvar variants

Variants in GUCA1B

Penetrance

Complete

Publications

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 GUCA1B. Rating Changed from Green List (high evidence) to Green List (high evidence)

27 Apr 2018, Gel status: 3