HOXD13

homeobox D13
OMIM: 142989, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Red HOXD13 in VACTERL-like phenotypes Level 3: Limb disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.34	review	Not set	Sources Expert Review Red Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Phenotypes Synpolydactyly, type II, 186000 Tags nucleotide-repeat-expansion
Green HOXD13 in Limb disorders Version 4.23 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	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
Green HOXD13 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 4.65 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Emory Genetics Laboratory Expert list Phenotypes Syndactyly, type V 186300 Brachydactyly-syndactyly syndrome 610713 Brachydactyly, type E 113300 Synpolydactyly 1 186000 Brachydactyly, type D 113200 Tags nucleotide-repeat-expansion
Red HOXD13 in Non-syndromic familial congenital anorectal malformations Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Version 1.9	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Other Phenotypes VACTERL ASSOCIATION
Green HOXD13 in Fetal anomalies Version 3.169 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes SYNPOLYDACTYLY 1 BRACHYDACTYLY TYPE D BRACHYDACTYLY-SYNDACTYLY SYNDROME BRACHYDACTYLY TYPE E VACTERL ASSOCIATION SYNDACTYLY TYPE 5
Green HOXD13 in DDG2P Version 3.90 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes BRACHYDACTYLY-SYNDACTYLY SYNDROME 610713 VACTERL ASSOCIATION 192350 BRACHYDACTYLY TYPE E 113300 SYNPOLYDACTYLY 1 186000 SYNDACTYLY TYPE 5 186300 BRACHYDACTYLY TYPE D 113200
Red HOXD13 in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.557 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Synpolydactyly, type II, 186000 Brachydactyly, type E, 113300 Brachydactyly, type D, 113200 Synpolydactyly with foot anomalies, 186000 Syndactyly, type V, 186300 Brachydactyly-syndactyly syndrome, 610713 ?VACTERL association, 192350
Green HOXD13 in Severe Paediatric Disorders Version 1.184	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes ?Brachydactyly-syndactyly syndrome, 610713 Synpolydactyly 1, 186000 Syndactyly, type V, 186300 Brachydactyly, type E, 113300 Brachydactyly, type D, 113200