Retinal disorders
Gene: IMPDH1

IMPDH1 (inosine monophosphate dehydrogenase 1)
EnsemblGeneIds (GRCh38): ENSG00000106348
EnsemblGeneIds (GRCh37): ENSG00000106348
OMIM: 146690, Gene2Phenotype
IMPDH1 is in 8 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, 8:04 a.m.

Created: 2 Jun 2016, 8:04 a.m.

Panel version: 0.201

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

NHS GMS
Expert Review Green

Phenotypes

Leber congenital amaurosis 11
Retinitis pigmentosa 10
Retinitis pigmentosa 10, 180105
Leber Congenital Amaurosis
Leber congenital amaurosis 11
Eye Disorders
Retinitis Pigmentosa, Dominant
Retinitis pigmentosa

OMIM

146690

Clinvar variants

Variants in IMPDH1

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 IMPDH1. Rating Changed from Green List (high evidence) to Green List (high evidence)

22 Mar 2016, Gel status: 4