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Limb disorders

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
  • 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

Added New Source, Set penetrance

Ellen McDonagh (Genomics England Curator)

Victorian Clinical Genetics Services was added to HOXA13. Panel: Limb disorders Phenotypes for gene HOXA13 were set to Guttmacher syndrome 176305, Hand-foot-genital syndrome 140000, Polydactyly

5 Apr 2018, Gel status: 4

Added New Source, Added New Source, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Expert Review Green was added to HOXA13. Panel: Limb disorders Radboud University Medical Center, Nijmegen was added to HOXA13. Panel: Limb disorders Expert list was added to HOXA13. Panel: Limb disorders Model of inheritance for gene HOXA13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

27 Nov 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

London South East RGC GSTT was added to HOXA13. Panel: Limb disorders

17 Nov 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

HOXA13 was added to Limb disorders panel. Sources: Viapath

17 Nov 2017, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

HOXA13 was created by Ellen McDonagh