Bleeding and Platelet Disorders
Gene: THPO
5 families reported with bi-allelic variants and thrombocytopenia with progression to pancytopenia, aplastic anemia, and bone marrow failure.Created: 30 Aug 2023, 2:15 a.m. | Last Modified: 30 Aug 2023, 2:15 a.m.
Panel Version: 1.21
Thrombocytopenia: 5 unrelated families reported.Created: 26 Aug 2023, 2:31 a.m. | Last Modified: 26 Aug 2023, 2:31 a.m.
Panel Version: 1.19
Both thrombotic and bleeding episodes described with this platelet disorder.
Sources: Expert listCreated: 16 Aug 2020, 7:57 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Thrombocythemia 1, MIM# 187950; Thrombocytopenia 9, MIM# 620478; Amegakaryocytic thrombocytopenia, congenital, 2, MIM# 620481
Publications
Phenotypes for gene: THPO were changed from Thrombocythemia 1, MIM# 187950; Thrombocytopenia 9, MIM# 620478 to Thrombocythemia 1, MIM# 187950; Thrombocytopenia 9, MIM# 620478; Amegakaryocytic thrombocytopenia, congenital, 2, MIM# 620481
Publications for gene: THPO were set to 9425899; 10583217; 32150607; 28466964
Mode of inheritance for gene: THPO was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: THPO were set to 9425899; 10583217
Phenotypes for gene: THPO were changed from Thrombocythemia 1, MIM# 187950 to Thrombocythemia 1, MIM# 187950; Thrombocytopenia 9, MIM# 620478
Gene: thpo has been classified as Green List (High Evidence).
Gene: thpo has been classified as Green List (High Evidence).
gene: THPO was added gene: THPO was added to Bleeding Disorders. Sources: Expert list Mode of inheritance for gene: THPO was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: THPO were set to 9425899; 10583217 Phenotypes for gene: THPO were set to Thrombocythemia 1, MIM# 187950 Review for gene: THPO was set to GREEN