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  3. THPO
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Bleeding and Platelet Disorders

Gene: THPO

Green List (high evidence)
THPO (thrombopoietin)
EnsemblGeneIds (GRCh38): ENSG00000090534
EnsemblGeneIds (GRCh37): ENSG00000090534
OMIM: 600044, Gene2Phenotype
THPO is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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 list
Created: 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

Created: 16 Aug 2020, 7:57 a.m.

Panel version: 1.22

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Thrombocythemia 1, MIM# 187950
  • Thrombocytopenia 9, MIM# 620478
  • Amegakaryocytic thrombocytopenia, congenital, 2, MIM# 620481
OMIM
600044
Clinvar variants
Variants in THPO
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Aug 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

30 Aug 2023, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: THPO were set to 9425899; 10583217; 32150607; 28466964

30 Aug 2023, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: THPO was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

26 Aug 2023, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: THPO were set to 9425899; 10583217

26 Aug 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: THPO were changed from Thrombocythemia 1, MIM# 187950 to Thrombocythemia 1, MIM# 187950; Thrombocytopenia 9, MIM# 620478

16 Aug 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: thpo has been classified as Green List (High Evidence).

16 Aug 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: thpo has been classified as Green List (High Evidence).

16 Aug 2020, Gel status: 1

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 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