Retinal disorders

Gene: TRIM32

Red List (low evidence)

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

Red List (low evidence)

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

• 16606853

Green List (high evidence)

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.