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| Skeletal dysplasia v1.218 | THPO | Eleanor Williams Classified gene: THPO as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.218 | THPO | Eleanor Williams Added comment: Comment on list classification: Demoted from Green to red. Only two cases reported with a limb defect and no clear wider skeletal phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.218 | THPO | Eleanor Williams Gene: thpo has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.217 | THPO |
Eleanor Williams commented on gene: THPO: 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). |
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| Skeletal dysplasia v1.153 | THPO |
Eleanor Williams Added phenotypes Thrombocythemia 1 187950 (rare presentation with congenital limb defects) for gene: THPO Publications for gene THPO were changed from 22453305; 19553636 to 19553636; 22453305 |
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| Skeletal dysplasia v1.152 | THPO | Tracy Lester edited their review of gene: THPO: Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.147 | THPO | Tracy Lester reviewed gene: THPO: Rating: GREEN; Mode of pathogenicity: ; Publications: 22453305, 19553636; Phenotypes: Thrombocythemia 1 187950 (rare presentation with congenital limb defects); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.146 | THPO | Eleanor Williams reviewed gene: THPO: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.145 | THPO |
Eleanor Williams Source NHS GMS was added to THPO. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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