Severe early-onset obesity
Gene: TUB
TUB is associated with a phenotype on OMIM but not on Gene2Phenotype. PMID: 24375934 reported on a consanguineous Caucasion family with 3 affected siblings who have retinal dystrophy and obesity (2 of 3 were obese). The affected individuals are homozygous for a frameshift variant in the TUB gene. There are several association studies (i.e. PMID: 16443771, 18183286) that have shown that TUB influences body weight in humans and there are numerous Tub mouse models that show that Tub knockout causes obesity in mice. However, as currently there is only one reported family (PMID: 24375934) and mouse models for this gene there is not enough evidence to promote this to green status. Therefore, TUB has been promoted to amber gene status until more evidence is available.Created: 15 Aug 2019, 2:02 p.m. | Last Modified: 15 Aug 2019, 2:02 p.m.
Panel Version: 1.22
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: Discussed With Ellie McDonagh not enough evidence at presentCreated: 9 Sep 2016, 11:44 a.m.
Comment on list classification: one family (retinal dystrophy + obesity), mouse model - maturity onset obesityCreated: 1 Sep 2016, 12:17 p.m.
Phenotypes for gene: TUB were changed from ?Retinal dystrophy and obesity, 616188 to ?Retinal dystrophy and obesity, OMIM:616188
Source Expert list was added to TUB. Source Expert Review Amber was added to TUB. Mode of inheritance for gene TUB was changed from to BIALLELIC, autosomal or pseudoautosomal Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Phenotypes for gene: TUB were changed from Retinal dystrophy and obesity (Borman (2014) Hum Mutat 35,289); ?Retinal dystrophy and obesity, 616188 to ?Retinal dystrophy and obesity, 616188
Phenotypes for gene: TUB were changed from Retinal dystrophy and obesity (Borman (2014) Hum Mutat 35,289) to Retinal dystrophy and obesity (Borman (2014) Hum Mutat 35,289); ?Retinal dystrophy and obesity, 616188
25/Oct/2016: Panel revised according to expert review and additional curation with internal discussion. Ready to be promoted to version 1.
Publications for TUB were set to 24375934; 22618246; 22492381; 19885003; 18619628; 18183286; 17955208 (candidate for late-onset obesity); 16643894; 16443771; 12076089; 10629044; 10196693;8612280
Publications for TUB were set to 24375934; 22618246; 22492381; 19885003; 18619628; 18183286; 17955208 (candidate for late-onset obesity); 16643894; 16443771; 12076089; 10629044;10196693
Publications for TUB were set to 24375934; 22618246; 22492381; 19885003; 18619628; 18183286; 17955208 (candidate for late-onset obesity); 16643894; 16443771; 12076089; 10629044
Publications for TUB were set to 24375934; 22618246; 22492381; 19885003; 18619628; 18183286; 17955208 (candidate for late-onset obesity); 16643894; 16443771;12076089
Publications for TUB were set to 24375934; 22618246; 22492381; 19885003; 18619628; 18183286; 17955208 (candidate for late-onset obesity); 16643894; 16443771
Publications for TUB were set to 24375934; 22618246; 22492381; 19885003; 18619628; 18183286; 17955208 (candidate for late-onset obesity);16643894
Publications for TUB were set to 24375934; 22618246; 22492381; 19885003; 18619628; 18183286;17955208 (candidate for late-onset obesity)
Publications for TUB were set to 24375934; 22618246; 22492381; 19885003; 18619628;18183286
Publications for TUB were set to 24375934; 22618246; 22492381; 19885003;18619628
Publications for TUB were set to 24375934; 22618246; 22492381;19885003
Publications for TUB were set to 24375934; 22618246; 22492381
Publications for TUB were set to 24375934;22618246
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
Publications for TUB were set to 24375934
This gene has been classified as Amber List (Moderate Evidence).
TUB was added to Significant early-onset obesity +/- other endocrine features and short staturepanel. Sources: Radboud University Medical Center, Nijmegen