Bone Marrow Failure
Gene: THPOEnsemblGeneIds (GRCh38): ENSG00000090534
EnsemblGeneIds (GRCh37): ENSG00000090534
OMIM: 600044, Gene2Phenotype
THPO is in 6 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
5 families reported with bi-allelic variants and thrombocytopenia with progression to pancytopenia, aplastic anemia, and bone marrow failure.
Sources: Expert ReviewCreated: 30 Aug 2023, 2:26 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Amegakaryocytic thrombocytopenia, congenital, 2, MIM# 620481
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- Amegakaryocytic thrombocytopenia, congenital, 2, MIM# 620481
- OMIM
- 600044
- Clinvar variants
- Variants in THPO
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: thpo has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: thpo has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: THPO was added gene: THPO was added to Bone Marrow Failure. Sources: Expert Review Mode of inheritance for gene: THPO was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: THPO were set to 24085763; 28559357; 29191945; 36226497 Phenotypes for gene: THPO were set to Amegakaryocytic thrombocytopenia, congenital, 2, MIM# 620481 Review for gene: THPO was set to GREEN