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  2. Bleeding and Platelet Disorders
  3. TUBB1
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Bleeding and Platelet Disorders

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

Manny Jacobs (Victorian Clinical Genetics Services)

Green List (high evidence)

Isolated non-syndromic macrothrombocytopenia
Created: 28 Mar 2022, 1:44 a.m. | Last Modified: 28 Mar 2022, 1:44 a.m.
Panel Version: 0.12062

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Macrothrombocytopenia, autosomal dominant, TUBB1-related, OMIM #613112; MONDO:0013141

Publications

Created: 28 Mar 2022, 1:44 a.m.
Last Modified: 28 Mar 2022, 1:44 a.m.
Panel version: Imported from Mendeliome panel version 0.12062

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Sources: Expert list
Created: 17 Aug 2020, 12:17 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

Created: 17 Aug 2020, 12:17 a.m.

Panel version: 0.185

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Macrothrombocytopenia, autosomal dominant, TUBB1-related, MIM# 613112
OMIM
612901
Clinvar variants
Variants in TUBB1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Aug 2020, 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).

17 Aug 2020, 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).

17 Aug 2020, Gel status: 1

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 Bleeding Disorders. Sources: Expert list Mode of inheritance for gene: TUBB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TUBB1 were set to 32757236; 31565851; 29333906; 18849486 Phenotypes for gene: TUBB1 were set to Macrothrombocytopenia, autosomal dominant, TUBB1-related, MIM# 613112 Review for gene: TUBB1 was set to GREEN