HOXD13

homeobox D13
OMIM: 142989, Gene2Phenotype

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green HOXD13 in Mendeliome Version 1.1902	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Brachydactyly, type E 113300 Brachydactyly, type D, MIM# 113200 Syndactyly, type V, MIM# 186300 Synpolydactyly 1, MIM# 186000 Brachydactyly-syndactyly syndrome, MIM# 610713
Green HOXD13 in Polydactyly Level 2: Dysmorphic and congenital abnormality syndromes Version 0.276 Component of the following Super Panels: Limb and Digital Malformations SuperPanel	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Synpolydactyly 1, MIM# 186000
Green HOXD13 in Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy Level 2: Endocrine disorders Version 0.13	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green HOXD13 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.285	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green UKGTN Expert Review Green Radboud University Medical Center, Nijmegen NHS GMS Expert list Emory Genetics Laboratory Victorian Clinical Genetics Services Phenotypes Brachydactyly, type E 113300 Brachydactyly, type D 113200 Syndactyly, type V 186300 Synpolydactyly 1 186000 Brachydactyly-syndactyly syndrome 610713
Green HOXD13 in Hand and foot malformations Level 2: Dysmorphic and congenital abnormality syndromes Version 0.74 Component of the following Super Panels: Limb and Digital Malformations SuperPanel	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Brachydactyly, type E 113300 Brachydactyly, type D, MIM# 113200 Syndactyly, type V, MIM# 186300 Synpolydactyly 1, MIM# 186000 Brachydactyly-syndactyly syndrome, MIM# 610713
Green HOXD13 in Fetal anomalies Version 1.255	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Brachydactyly, type D MIM#113200 Brachydactyly, type E MIM#113300 Syndactyly, type V MIM#186300 Synpolydactyly 1 MIM#186000
Green SPD1 STR in Repeat Disorders Version 0.167	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Synpolydactyly 1 MIM#186000 Tags paediatric-onset