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Hearing loss

Gene: TUB

Red List (low evidence)

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

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