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  3. TUBB1
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Inherited bleeding 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

Louise Daugherty (Genomics England Curator)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Macrothrombocytopenia, Beta-tubulin 1 related

Created: 19 Dec 2016, 11:31 a.m.

Panel version: 0.18

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Macrothrombocytopenia, Beta-tubulin 1 related

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

Created: 19 Dec 2016, 11:18 a.m.

Panel version: 0.17

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Macrothrombocytopenia, Beta-tubulin 1 related
OMIM
612901
Clinvar variants
Variants in TUBB1
Penetrance
Complete
Panels with this gene

History Filter Activity

19 Dec 2016, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Revised 19 December 2016

19 Dec 2016, Gel status: 4

Approved Gene

Louise Daugherty (Genomics England Curator)

This proposed gene was validated and added to this panel

19 Dec 2016, Gel status: 0

Added New Source

Louise Daugherty (Genomics England Curator)

TUBB1 was added to Inherited bleeding disorderspanel. Source: Expert Review Green

19 Dec 2016, Gel status: 0

Added New Source

BRIDGE consortium (NIHRBR-RD)

TUBB1 was added to Inherited bleeding disorderspanel. Sources: BRIDGE consortium (NIHRBR-RD)

19 Dec 2016, Gel status: 0

Created

BRIDGE consortium (NIHRBR-RD)

TUBB1 was created by BRIDGE