Radial dysplasia
Gene: HOXA13EnsemblGeneIds (GRCh38): ENSG00000106031
EnsemblGeneIds (GRCh37): ENSG00000106031
OMIM: 142959, Gene2Phenotype
HOXA13 is in 9 panels
4 reviews
Helen Brittain (Genomics England Curator)
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)
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 176305Created: 28 Jul 2016, 12:43 p.m.
Ana Beleza (Bristol Regional Genetics Service)
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
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
panel promoted to version 1
Rebecca Foulger (Genomics England curator)23.05.2017: Panel revised and approved to Version 1.0 after expert review.
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for HOXA13 were set to Hand-foot-uterus syndrome, 140000
Set publications
Helen Brittain (Genomics England Curator)Publications for HOXA13 were set to 9020844; 10839976
Set Phenotypes
Helen Brittain (Genomics England Curator)Phenotypes for HOXA13 were set to Hand-foot-uterus syndrome 140000
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Created
Richard Scott (Genomics England Curator)HOXA13 was created by richardhywel
Added New Source
Richard Scott (Genomics England Curator)HOXA13 was added to Radial dysplasiapanel. Sources: Expert Review