Cytopenia - NOT Fanconi anaemia
Gene: TUBA8EnsemblGeneIds (GRCh38): ENSG00000183785
EnsemblGeneIds (GRCh37): ENSG00000183785
OMIM: 605742, Gene2Phenotype
TUBA8 is in 13 panels
2 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
Six unrelated individuals were identified with TUBA8 missense variants in a large cohort of blood donors with mild thrombocytopenia and these individuals were generally asymptomatic and one had menorrhagia. There is also some functional data available.Created: 1 Mar 2024, 3:04 p.m. | Last Modified: 1 Mar 2024, 3:04 p.m.
Panel Version: 3.23
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Macrothrombocytopenia, isolated, 2, autosomal dominant, OMIM:619840
Publications
Hannah Knight (NIHR BioResource - University of Cambridge)
PMID: 34704371 (2022) identified rare variants in this gene in patients with macrothrombocytopenia. Associated with a phenotype on OMIM
Sources: LiteratureCreated: 22 Nov 2023, 3:40 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Macrothrombocytopenia, isolated, 2, autosomal dominant
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Macrothrombocytopenia, isolated, 2, autosomal dominant, OMIM:619840
- OMIM
- 605742
- Clinvar variants
- Variants in TUBA8
- Penetrance
- None
- Publications
- Panels with this gene
-
- DDG2P
- Cerebellar hypoplasia
- Early onset or syndromic epilepsy
- Inherited white matter disorders
- Fetal anomalies
- Cerebral vascular malformations
- White matter disorders and cerebral calcification - narrow panel
- Malformations of cortical development
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary ataxia with onset in adulthood
- Cytopenia - NOT Fanconi anaemia
- Ataxia and cerebellar anomalies - narrow panel
History Filter Activity
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: tuba8 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: TUBA8 were changed from Macrothrombocytopenia, isolated, 2, autosomal dominant to Macrothrombocytopenia, isolated, 2, autosomal dominant, OMIM:619840
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Hannah Knight (NIHR BioResource - University of Cambridge)gene: TUBA8 was added gene: TUBA8 was added to Cytopenia - NOT Fanconi anaemia. Sources: Literature Mode of inheritance for gene: TUBA8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TUBA8 were set to 34704371 Phenotypes for gene: TUBA8 were set to Macrothrombocytopenia, isolated, 2, autosomal dominant Review for gene: TUBA8 was set to AMBER