Retinal disorders
Gene: TRIM32
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 8 Mar 2022, 10:06 a.m. | Last Modified: 8 Mar 2022, 10:06 a.m.
Panel Version: 2.243
This gene is possibile associated to a relevant phenotype in OMIM and Gen2Phenotype. No further evidence could be found aside from the single BBS case. There is not enough evidence to support a gene-disease association, therefore this gene should be demoted to Red status.Created: 27 Jan 2021, 3:49 p.m. | Last Modified: 27 Jan 2021, 3:49 p.m.
Panel Version: 2.155
Single family reported in 2006 with BBS phenotype, which is the phenotype relevant to this panel.
Gene is associated with a muscle disorder as well, and that association is much better established.Created: 15 Oct 2020, 2:50 a.m. | Last Modified: 15 Oct 2020, 2:50 a.m.
Panel Version: 2.20
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bardet-Biedl syndrome 11, MIM# 615988
Publications
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, 8:05 a.m.
Tag for-review was removed from gene: TRIM32.
Source Expert Review Red was added to TRIM32. Rating Changed from Green List (high evidence) to Red List (low evidence)
Tag for-review tag was added to gene: TRIM32.
Phenotypes for gene: TRIM32 were changed from Eye Disorders to Bardet-Biedl syndrome 11, OMIM:615988
Publications for gene: TRIM32 were set to
Source NHS GMS was added to TRIM32. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Mode of inheritance for TRIM32 was changed to BIALLELIC, autosomal or pseudoautosomal
TRIM32 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green
TRIM32 was created by ellenmcdonagh