Radial dysplasia

Gene: HOXA13

Green List (high evidence)

HOXA13 (homeobox A13)
EnsemblGeneIds (GRCh38): ENSG00000106031
EnsemblGeneIds (GRCh37): ENSG00000106031
OMIM: 142959, Gene2Phenotype
HOXA13 is in 7 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

Richard Scott (Genomics England Curator)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
140000

Publications

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.

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Hand-foot-uterus syndrome, 140000
OMIM
142959
Clinvar variants
Variants in HOXA13
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

23 May 2017, Gel status: 4

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

23.05.2017: Panel revised and approved to Version 1.0 after expert review.

22 May 2017, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for HOXA13 were set to Hand-foot-uterus syndrome, 140000

11 May 2017, Gel status: 4

Set publications

Helen Brittain (Genomics England Curator)

Publications for HOXA13 were set to 9020844; 10839976

11 May 2017, Gel status: 4

Set Phenotypes

Helen Brittain (Genomics England Curator)

Phenotypes for HOXA13 were set to Hand-foot-uterus syndrome 140000

6 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

6 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

6 Nov 2016, Gel status: 0

Created

Richard Scott (Genomics England Curator)

HOXA13 was created by richardhywel

6 Nov 2016, Gel status: 0

Added New Source

Richard Scott (Genomics England Curator)

HOXA13 was added to Radial dysplasiapanel. Sources: Expert Review