Activity
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| Limb disorders v1.63 | THPO | Eleanor Williams Classified gene: THPO as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v1.63 | THPO | Eleanor Williams Added comment: Comment on list classification: Promoting from red to amber. Two cases of Thrombocythemia with limb defects and variants in THPO reported. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v1.63 | THPO | Eleanor Williams Gene: thpo has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v1.62 | THPO |
Eleanor Williams 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 Added comment: 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 |
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