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Severe early-onset obesity

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Single family and supportive functional data.
Created: 3 Nov 2021, 5:58 a.m. | Last Modified: 3 Nov 2021, 5:58 a.m.
Panel Version: 0.70

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinal dystrophy and obesity 616188

Created: 3 Nov 2021, 5:58 a.m.
Last Modified: 3 Nov 2021, 5:58 a.m.
Panel version: 0.70

Belinda Chong (Victorian Clinical Genetics Services)

Red List (low evidence)

Single consanguineous Caucasian family from the United Kingdom in which 3 sibs had retinal dystrophy and obesity.

PMID: 28852204 Mutations in the Tubby gene (TUB) cause late-onset obesity and insulin resistance in mice and syndromic obesity in humans. Although TUB gene function has not yet been fully elucidated, studies in rodents indicate that TUB is involved in the hypothalamic pathways regulating food intake and adiposity.
Created: 3 Nov 2021, 4:40 a.m. | Last Modified: 3 Nov 2021, 4:40 a.m.
Panel Version: 0.59

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Retinal dystrophy and obesity 616188

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 3 Nov 2021, 4:40 a.m.
Last Modified: 3 Nov 2021, 4:40 a.m.
Panel version: 0.59

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Genomics England PanelApp
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 ?Retinal dystrophy and obesity, OMIM:616188 to Retinal dystrophy and obesity, MIM# 616188

31 Oct 2021, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TUB was added gene: TUB was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Amber Mode of inheritance for gene: TUB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TUB were set to 16443771; 22618246; 24375934; 18619628; 12076089; 16643894; 8612280; 10629044; 19885003; 10196693; 22492381; 17955208 (candidate for late-onset obesity); 18183286 Phenotypes for gene: TUB were set to ?Retinal dystrophy and obesity, OMIM:616188