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  3. TUB
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Syndromic Retinopathy

Gene: TUB

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Single family with 3 affected sibs; supportive functional data.
Created: 3 Nov 2021, 5:59 a.m. | Last Modified: 3 Nov 2021, 5:59 a.m.
Panel Version: 0.179

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinal dystrophy and obesity, MIM# 616188

Publications

Created: 3 Nov 2021, 5:59 a.m.
Last Modified: 3 Nov 2021, 5:59 a.m.
Panel version: 0.179

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • RetNet
Phenotypes
  • Retinal dystrophy and obesity, MIM# 616188
OMIM
601197
Clinvar variants
Variants in TUB
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Nov 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tub has been classified as Amber List (Moderate Evidence).

3 Nov 2021, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TUB were changed from to Retinal dystrophy and obesity, MIM# 616188

3 Nov 2021, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TUB were set to

3 Nov 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tub has been classified as Amber List (Moderate Evidence).

7 Feb 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

gene: TUB was added gene: TUB was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet Mode of inheritance for gene: TUB was set to BIALLELIC, autosomal or pseudoautosomal