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Retinal disorders

Gene: ITM2B

Red List (low evidence)

ITM2B (integral membrane protein 2B)
EnsemblGeneIds (GRCh38): ENSG00000136156
EnsemblGeneIds (GRCh37): ENSG00000136156
OMIM: 603904, Gene2Phenotype
ITM2B is in 4 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

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.

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

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

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

23 Mar 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

23 Mar 2016, Gel status: 0

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for ITM2B were set to ?Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities (OMIM)

23 Mar 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

ITM2B was created by ellenmcdonagh

23 Mar 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

ITM2B was added to Posterior segment abnormalitiespanel. Sources: Expert list