Retinal disorders
Gene: ITM2B

ITM2B (integral membrane protein 2B)
EnsemblGeneIds (GRCh38): ENSG00000136156
EnsemblGeneIds (GRCh37): ENSG00000136156
OMIM: 603904, Gene2Phenotype
ITM2B is in 5 panels

3 reviews

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

Red List (low evidence)

Audo et al 2014 - no further evidence
Created: 30 Aug 2019, 2:12 p.m. | Last Modified: 30 Aug 2019, 2:12 p.m.

Panel Version: 1.159

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)

Red List (low evidence)

Candidate gene for RP (in a single family) - but not proven. More associations with dementia. In my opinion there is insufficient evidence to be on the panel.
Created: 1 Jun 2016, 10:25 a.m.

Publications

PMID: 24026677

Created: 1 Jun 2016, 10:25 a.m.

Panel version: 0.173

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

NHS GMS
Expert Review Red
Expert list

Phenotypes

?Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities (OMIM)

OMIM

603904

Clinvar variants

Variants in ITM2B

Penetrance

Complete

Panels with this gene

History Filter Activity

3 Apr 2019, Gel status: 1

Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to ITM2B.

1 Jun 2016, Gel status: 1