Skeletal dysplasia
Gene: HOXA13
Brachydactylies (with extraskeletal manifestations) gp of SD. Variants include polyAla expansion - several cases; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Guttmacher syndrome 176305; Hand-foot-uterus syndrome 140000
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: HOXA13; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
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
Added phenotypes Hand-foot-uterus syndrome 140000; Guttmacher syndrome 176305 for gene: HOXA13
Source NHS GMS was added to HOXA13. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
This gene has been classified as Green List (High Evidence).
Mode of inheritance for HOXA13 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
HOXA13 was added to Unexplained skeletal dysplasiapanel. Sources: Expert list,Radboud University Medical Center, Nijmegen
Phenotypes for HOXA13 were set to Guttmacher syndrome 176305; Hand-foot-genital syndrome 140000
HOXA13 was added to Unexplained skeletal dysplasiapanel. Sources:
HOXA13 was created by sleigh