1. Panels
  2. Congenital hypothyroidism
  3. TUBB1
STRs in panel
Prev Next
Regions in panel
Prev Next

Congenital hypothyroidism

Gene: TUBB1

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Comment when marking as ready: Green for mono allelic variants, limited evidence for bi-allelic variants.

Congenital hypothyroidism in some.
Created: 3 Feb 2021, 9:28 a.m. | Last Modified: 27 Mar 2023, 3:54 a.m.
Panel Version: 0.43
Created: 3 Feb 2021, 9:28 a.m.
Last Modified: 27 Mar 2023, 3:54 a.m.
Panel version: 0.21

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

Stoupa et al. (2018) reported 3 families ( 1 with bilallelic variants, and 2 with monoallelic variants) with functional evidence of variants and mouse models
Sun et al (2019) reported 4 further cases with the same HTZ variant (R318W), no functional evidence
Created: 3 Feb 2021, 4:29 a.m. | Last Modified: 3 Feb 2021, 4:29 a.m.
Panel Version: 0.9

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Macrothrombocytopenia, autosomal dominant, TUBB1-related, OMIM # 613112

Publications

Created: 3 Feb 2021, 4:29 a.m.
Last Modified: 3 Feb 2021, 4:29 a.m.
Panel version: 0.9

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Macrothrombocytopenia, autosomal dominant, TUBB1-related, OMIM # 613112
  • Primary congenital hypothyroidism, thyroid dysgenesis, macroplatelets
OMIM
612901
Clinvar variants
Variants in TUBB1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tubb1 has been classified as Green List (High Evidence).

3 Feb 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TUBB1 were changed from Primary congenital hypothyroidism, thyroid dysgenesis, macroplatelets to Macrothrombocytopenia, autosomal dominant, TUBB1-related, OMIM # 613112; Primary congenital hypothyroidism, thyroid dysgenesis, macroplatelets

3 Feb 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TUBB1 were set to 30446499

3 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: tubb1 has been classified as Green List (High Evidence).

3 Feb 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: TUBB1 was added gene: TUBB1 was added to Congenital hypothyroidism. Sources: Expert Review Amber,Genomics England PanelApp 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