Limb disorders

Gene: HOXA11

I don't know

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.

Created: 18 Aug 2021, 3:07 p.m. | Last Modified: 18 Aug 2021, 3:07 p.m.

Panel Version: 2.56

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

Created: 18 Aug 2021, 1:58 p.m.

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

Phenotypes
Radioulnar synostosis with amegakaryocytic thrombocytopenia 1, OMIM:605432; radioulnar synostosis with amegakaryocytic thrombocytopenia 1, MONDO:0024558

Publications

• 11101832