Limb disorders
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
Ana Beleza: Tier 2
Added phenotypes Hand-foot-uterus syndrome, 140000 for gene: HOXA13 Publications for gene HOXA13 were changed from to 10839976; 9020844
Victorian Clinical Genetics Services was added to HOXA13. Panel: Limb disorders Phenotypes for gene HOXA13 were set to Guttmacher syndrome 176305, Hand-foot-genital syndrome 140000, Polydactyly
Expert Review Green was added to HOXA13. Panel: Limb disorders Radboud University Medical Center, Nijmegen was added to HOXA13. Panel: Limb disorders Expert list was added to HOXA13. Panel: Limb disorders Model of inheritance for gene HOXA13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
London South East RGC GSTT was added to HOXA13. Panel: Limb disorders
HOXA13 was added to Limb disorders panel. Sources: Viapath
HOXA13 was created by Ellen McDonagh