Limb disordersGene: RBM10
Associated with TARP syndrome in OMIM and probably association in Gene2Phenotype.
6 families reported (PMID: 20451169 - families 1 and 2; 21910224- family 3;24259342 - families 4,5,6) with variable TARP syndrome or TARP syndrome related phenotypes in males. Phenotypes related to limb disorders include talipes equinovarus in 1 family, and probably in the first described family (no journal access, PMID: 5410571), extreme dorsiflexion of the left foot in the 3rd family, mild toe syndactyly, postaxial toe polydactyly, cutaneous syndactyly but no talipes equinovarus in a 4th family, foreshortened long bones and clinodactyly (no talipes equinovarus) in a fifth family and clinodactyly in a 6th family.
Created: 24 Oct 2018, 2:38 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
TARP syndrome 311900
Eleanor Williams: Associated with TARP syndrome
Mode of inheritance for gene RBM10 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females Added phenotypes TARP syndrome 311900 for gene: RBM10 Publications for gene RBM10 were changed from to 21910224; 20451169; 24259342
RBM10 was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services
RBM10 was created by Ellen McDonagh