Retinal disorders
Gene: TUB

TUB (tubby bipartite transcription factor)
EnsemblGeneIds (GRCh38): ENSG00000166402
EnsemblGeneIds (GRCh37): ENSG00000166402
OMIM: 601197, Gene2Phenotype
TUB is in 3 panels

3 reviews

Louise Daugherty (Genomics England Curator)

As a result of watchlist tag audit the watchlist tag was removed from TUB- this is now a green gene with sufficient evidence/review
Created: 13 Jan 2020, 4:49 p.m. | Last Modified: 13 Jan 2020, 4:49 p.m.

Panel Version: 2.6

Created: 13 Jan 2020, 4:49 p.m.
Last Modified: 13 Jan 2020, 4:49 p.m.
Panel version: 2.6

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

Green List (high 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, 8:05 a.m.

Publications

Created: 19 Oct 2016, 8:03 a.m.

Panel version: 1.11

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Green

Phenotypes

Genetic Retinal Degeneration Conditions

OMIM

601197

Clinvar variants

Variants in TUB

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

13 Jan 2020, Gel status: 3

Removed Tag

Louise Daugherty (Genomics England Curator)

Tag watchlist was removed from gene: TUB.

3 Apr 2019, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to TUB. Rating Changed from Green List (high evidence) to Green List (high evidence)

7 Mar 2017, Gel status: 4