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Limb disorders

Gene: THPO

Amber List (moderate evidence)

THPO (thrombopoietin)
EnsemblGeneIds (GRCh38): ENSG00000090534
EnsemblGeneIds (GRCh37): ENSG00000090534
OMIM: 600044, Gene2Phenotype
THPO is in 7 panels

1 review

Eleanor Williams (Genomics England Curator)

I don't know

Comment on list classification: Promoting from red to amber. Two cases of Thrombocythemia with limb defects and variants in THPO reported.
Created: 20 Nov 2019, 12:20 p.m. | Last Modified: 20 Nov 2019, 12:20 p.m.
Panel Version: 1.63
Associated with Thrombocythemia 1 #187950 (AD) in OMIM.


PMID: 19553636 - Graziano et al 2009 - report where the father has thrombocythemia and limb defects (absence of forearm and hand, absence of foot). Two sons had milder lower limb defects. A G185T heterozygous mutation was detected in THPO. The grandfather was found to have the variant and had thrombocythemia but no limb defect.

PMID: 22453305 - Stockklausner et al 2012 - report two families with Hereditary thrombocythemia resulting from a THPO c.13+1 G>C mutation in the splice donor of intron 3. In one family there were coexisting distal limb defects in 2 out of 4 individuals with thrombocythemia (complex limb defects of the left hand in one individual, and absent proximal, middle, and distal phalanges at digits 3–5, a dysplastic proximal phalanx at digit 2 with absent middle and distal phalanx and shortened metacarpal bones at digits 3 and 4, carpal bones were partly fused to metacarpal bones at digits 2–5 in the other).

Two cases reported with a limb defect and no clear wider skeletal phenotype.
Sources: Literature
Created: 20 Nov 2019, 12:19 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Thrombocythemia 1, 187950

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Thrombocythemia 1, 187950
OMIM
600044
Clinvar variants
Variants in THPO
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Nov 2019, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: thpo has been classified as Amber List (Moderate Evidence).

20 Nov 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: THPO was added gene: THPO was added to Limb disorders. Sources: Literature Mode of inheritance for gene: THPO was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: THPO were set to 19553636; 22453305 Phenotypes for gene: THPO were set to Thrombocythemia 1, 187950 Review for gene: THPO was set to AMBER