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| Limb disorders v2.56 | HOXA11 | Eleanor Williams Classified gene: HOXA11 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v2.56 | HOXA11 | Eleanor Williams Added comment: Comment on list classification: Leaving the rating as red as there are only 2 cases reported, each with the same variant, and only 2 genes were looked at in the analyses of these patients. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v2.56 | HOXA11 | Eleanor Williams Gene: hoxa11 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v2.55 | HOXA11 |
Eleanor Williams gene: HOXA11 was added gene: HOXA11 was added to Limb disorders. Sources: Literature Mode of inheritance for gene: HOXA11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: HOXA11 were set to 11101832 Phenotypes for gene: HOXA11 were set to Radioulnar synostosis with amegakaryocytic thrombocytopenia 1, OMIM:605432; radioulnar synostosis with amegakaryocytic thrombocytopenia 1, MONDO:0024558 Review for gene: HOXA11 was set to AMBER Added comment: Associated with Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 #605432 (AD) in OMIM. 2 unrelated cases reported in PMID: 11101832 - Thompson and Nguyen 2000. In both families the fathers and all affected children show proximal fusion of the radius and ulna. 3 out of the 4 children, but not the fathers had symptomatic thrombocytopenia. Only the HOXA10 and HOXA11 genes were analysed. The same single base-pair deletion in a highly conserved region encoding the homeodomain was found in HOXA11 in affected individuals. A PubMed search does not find any further reported cases. Sources: Literature |
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