Retinal disorders
Gene: CNNM4

CNNM4 (cyclin and CBS domain divalent metal cation transport mediator 4)
EnsemblGeneIds (GRCh38): ENSG00000158158
EnsemblGeneIds (GRCh37): ENSG00000158158
OMIM: 607805, Gene2Phenotype
CNNM4 is in 4 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

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Green

Phenotypes

Achromatopsia, Cone, and Cone-rod Dystrophy
Eye Disorders
Jalili syndrome

OMIM

607805

Clinvar variants

Variants in CNNM4

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 CNNM4. Rating Changed from Green List (high evidence) to Green List (high evidence)

22 Mar 2016, Gel status: 4