Monogenic hearing loss
Gene: TUB

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

1 review

Jun Shen (Harvard Medical School)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
#616188:?Retinal dystrophy and obesity[Obesity (in some patients); Decreased visual acuityMyopiaAstigmatismRetinal pallor, generalizedRetinal pigment epithelial atrophy, widespreadArteriolar attenuationFine peripheral pigmentary mottlingWhite dots throughout retinaSparing of maculaPeripapillary atrophyRetinal detachment (rare)Color vision disturbance in protan, deutan, and tritan axesSeverely reduced peripheral visual fieldAbsent rod responses and small residual cone response on electroretinographyLoss of inner segment/outer segment junction in the parafoveal area on ocular coherence tomography (in some patients)]

Publications

Created: 7 Feb 2016, 9:02 a.m.

Panel version: 0.105

Details

Sources

Expert

OMIM

601197

Clinvar variants

Variants in TUB

Penetrance

Complete

Panels with this gene

History Filter Activity

24 Jun 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

TUB was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Expert