Congenital hypothyroidism

Gene: TUBB1

Amber List (moderate evidence)

TUBB1 (tubulin beta 1 class VI)
EnsemblGeneIds (GRCh38): ENSG00000101162
EnsemblGeneIds (GRCh37): ENSG00000101162
OMIM: 612901, Gene2Phenotype
TUBB1 is in 5 panels

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: Promoted from red to amber. TUBB1 is not associated with congenital hypothyroidism in OMIM or Gene2Phenotype. PMID: 30446499 reported on 3 unrelated families with affected individuals who have different variants in TUBB1.

Family #1: consanguineous family of Algerian descent with 3 out of 5 children affected by disease. All 3 children are homozygous for a missense variant and both parents are heterozygous.

Family #2: Moroccan father and French mother with 1 affected child (3 children in total). The affected child is heterozygous for a nonsense variant. The father has the same heterozygous variant, but no tests could be done to confirm phenotype. A paternal aunt with the same heterozygous variant also presented with disease.

Family #3: French family with 1 affected child (3 children in total). Affected child is heterozygous for a frameshift variant. The father has the same heterozygous variant but has normal thyroid function (did not present with disease).

Knockout mouse model showed a thyroid phenotype.

Due to the evidence from family #2 and #3 it was decided that there was not yet enough evidence to promote TUBB1 to green gene status.
Created: 19 Jun 2019, 1:08 p.m.

Nadia Schoenmakers (University of Cambridge)

I don't know

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Primary congenital hypothyroidism, thyroid dysgenesis, macroplatelets

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • East of England GLH
Phenotypes
  • Primary congenital hypothyroidism, thyroid dysgenesis, macroplatelets
OMIM
612901
Clinvar variants
Variants in TUBB1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Jun 2019, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: tubb1 has been classified as Amber List (Moderate Evidence).

18 Jun 2019, Gel status: 1

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

Ivone Leong (Genomics England Curator)

gene: TUBB1 was added gene: TUBB1 was added to Congenital hypothyroidism. Sources: East of England GLH Mode of inheritance for gene: TUBB1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: TUBB1 were set to 30446499 Phenotypes for gene: TUBB1 were set to Primary congenital hypothyroidism, thyroid dysgenesis, macroplatelets