Bone Marrow Failure
Gene: TBXAS1EnsemblGeneIds (GRCh38): ENSG00000059377
EnsemblGeneIds (GRCh37): ENSG00000059377
OMIM: 274180, Gene2Phenotype
TBXAS1 is in 6 panels
1 review
Chirag Patel (Genetic Health Queensland)
Ghosal hematodiaphyseal dysplasia (GHDD) is an autosomal recessive disorder characterized by increased bone density with predominant diaphyseal involvement and aregenerative corticosteroid-sensitive anemia. Cases with severe anemia, leukopenia, thrombocytopenia, and hypocellular bone marrow.
Sources: Expert listCreated: 12 Dec 2023, 11:19 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ghosal hematodiaphyseal syndrome, MIM#231095
Publications
- PMID: 18264100
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Ghosal hematodiaphyseal syndrome, MIM#231095
- OMIM
- 274180
- Clinvar variants
- Variants in TBXAS1
- Penetrance
- None
- Publications
-
- PMID: 18264100
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: tbxas1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: tbxas1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Chirag Patel (Genetic Health Queensland)gene: TBXAS1 was added gene: TBXAS1 was added to Bone Marrow Failure. Sources: Expert list Mode of inheritance for gene: TBXAS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TBXAS1 were set to PMID: 18264100 Phenotypes for gene: TBXAS1 were set to Ghosal hematodiaphyseal syndrome, MIM#231095 Review for gene: TBXAS1 was set to GREEN gene: TBXAS1 was marked as current diagnostic