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Limb disorders

Gene: HOXD13

Green List (high evidence)

HOXD13 (homeobox D13)
EnsemblGeneIds (GRCh38): ENSG00000128714
EnsemblGeneIds (GRCh37): ENSG00000128714
OMIM: 142989, Gene2Phenotype
HOXD13 is in 7 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotypes in G2P. Numerous variants reported in these phenotypes.
Created: 7 Jul 2016, 9:03 a.m.
Comment on list classification: Tier 2 gene for skeletal dysplasia (Ana Beleza)
Created: 7 Jul 2016, 8:59 a.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
Brachydactyly-syndactyly syndrome 610713; Brachydactyly, type D 113200; Brachydactyly, type E 113300; Syndactyly, type V 186300 ; Synpolydactyly 1 186000

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
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert Review Green
  • Expert list
  • London South East RGC GSTT
  • Viapath
Phenotypes
  • Brachydactyly-syndactyly syndrome 610713
  • Brachydactyly, type D 113200
  • Brachydactyly, type E 113300
  • Syndactyly, type V 186300
  • Synpolydactyly 1 186000
  • Polydactyly
OMIM
142989
Clinvar variants
Variants in HOXD13
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

13 Aug 2018, Gel status: 4

Added New Source, Set penetrance

Ellen McDonagh (Genomics England Curator)

Victorian Clinical Genetics Services was added to HOXD13. Panel: Limb disorders Phenotypes for gene HOXD13 were set to Brachydactyly-syndactyly syndrome 610713, Brachydactyly, type D 113200, Brachydactyly, type E 113300, Syndactyly, type V 186300, Synpolydactyly 1 186000, Polydactyly

5 Apr 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

Expert list was added to HOXD13. Panel: Limb disorders Expert Review Green was added to HOXD13. Panel: Limb disorders UKGTN was added to HOXD13. Panel: Limb disorders Radboud University Medical Center, Nijmegen was added to HOXD13. Panel: Limb disorders Emory Genetics Laboratory was added to HOXD13. Panel: Limb disorders Model of inheritance for gene HOXD13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene HOXD13 was set to ['9758628', '12649808', '17236141']

27 Nov 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

London South East RGC GSTT was added to HOXD13. Panel: Limb disorders

17 Nov 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

HOXD13 was added to Limb disorders panel. Sources: Viapath

17 Nov 2017, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

HOXD13 was created by Ellen McDonagh