Limb disorders
Gene: HOXD13Comment 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.
Tier 2Created: 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
Ana Beleza: Tier 2
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
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']
London South East RGC GSTT was added to HOXD13. Panel: Limb disorders
HOXD13 was added to Limb disorders panel. Sources: Viapath
HOXD13 was created by Ellen McDonagh