Retinal disordersGene: ITM2B
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
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.
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.
Source NHS GMS was added to ITM2B.
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Amber List (Moderate Evidence).
Phenotypes for ITM2B were set to ?Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities (OMIM)
ITM2B was created by ellenmcdonagh
ITM2B was added to Posterior segment abnormalitiespanel. Sources: Expert list