Limb disorders
Gene: HOXA13

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

4 reviews

Helen Brittain (Genomics England Curator)

Green List (high evidence)

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

10839976

Created: 11 May 2017, 9:54 a.m.

Panel version: Imported from Radial dysplasia panel version 0.72

Richard Scott (Genomics England Curator)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
140000

Publications

9020844

Created: 6 Nov 2016, 5:52 a.m.

Panel version: Imported from Radial dysplasia panel version 0.5

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: Imported from Unexplained skeletal dysplasia 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: Imported from Unexplained skeletal dysplasia panel version 0.4

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Victorian Clinical Genetics Services
Expert list
Radboud University Medical Center, Nijmegen
Expert Review Green
London South East RGC GSTT
Viapath

Phenotypes

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

OMIM

142959

Clinvar variants

Variants in HOXA13

Penetrance

None

Publications

Panels with this gene

History Filter Activity

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Ana Beleza: Tier 2

16 Oct 2018, Gel status: 4

Set Phenotypes, Set publications

Sarah Leigh (Genomics England Curator)

Added phenotypes Hand-foot-uterus syndrome, 140000 for gene: HOXA13 Publications for gene HOXA13 were changed from to 10839976; 9020844

13 Aug 2018, Gel status: 4