Skeletal dysplasia
Gene: HOXA13

HOXA13 (homeobox A13)
EnsemblGeneIds (GRCh38): ENSG00000106031
EnsemblGeneIds (GRCh37): ENSG00000106031
OMIM: 142959, Gene2Phenotype
HOXA13 is in 9 panels

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Brachydactylies (with extraskeletal manifestations) gp of SD. Variants include polyAla expansion - several cases; Review on behalf of Tracy Lester
Created: 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

Created: 6 Mar 2019, 11:44 a.m.

Panel version: 1.147

Eleanor Williams (Genomics England Curator)

I don't know

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: green
Created: 6 Mar 2019, 11:36 a.m.

Created: 6 Mar 2019, 11:36 a.m.

Panel version: 1.146

Sarah Leigh (Genomics England Curator)

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 176305
Created: 28 Jul 2016, 12:43 p.m.

Created: 28 Jul 2016, 12:43 p.m.

Panel version: 0.894

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 2
Created: 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

Created: 17 Jun 2016, 8:04 a.m.

Panel version: 0.4

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

NHS GMS
Expert Review Green
Expert list
Radboud University Medical Center, Nijmegen

Phenotypes

Hand-foot-genital syndrome 140000
Hand-foot-uterus syndrome 140000
Guttmacher syndrome 176305

OMIM

142959

Clinvar variants

Variants in HOXA13

Penetrance

Complete

Panels with this gene

History Filter Activity

6 May 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Hand-foot-uterus syndrome 140000; Guttmacher syndrome 176305 for gene: HOXA13

6 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to HOXA13. Rating Changed from Green List (high evidence) to Green List (high evidence)

9 Aug 2016, Gel status: 4