Radial dysplasia
Gene: HOXA13
Phenotypic spectrum involves radial ray anomalies (often hypoplastic thumbs). Therefore included but represents broadest range of phenotypic inclusion.Created: 11 May 2017, 9:54 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Hand-foot-uterus syndrome 140000
Publications
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
140000
Publications
Comment when marking as ready: Associated with phenotypes in OMIM and Hand-foot-genital syndrome 140000 in G2P. Numerous variants reported Hand-foot-genital syndrome 140000 and at least one in Guttmacher syndrome 176305Created: 28 Jul 2016, 12:43 p.m.
Tier 2Created: 17 Jun 2016, 8:04 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Guttmacher syndrome 176305; Hand-foot-genital syndrome 140000
Variants in this GENE are reported as part of current diagnostic practice
23.05.2017: Panel revised and approved to Version 1.0 after expert review.
Phenotypes for HOXA13 were set to Hand-foot-uterus syndrome, 140000
Publications for HOXA13 were set to 9020844; 10839976
Phenotypes for HOXA13 were set to Hand-foot-uterus syndrome 140000
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
HOXA13 was created by richardhywel
HOXA13 was added to Radial dysplasiapanel. Sources: Expert Review