Ectodermal dysplasia

Gene: HOXC13

Green List (high evidence)

HOXC13 (homeobox C13)
EnsemblGeneIds (GRCh38): ENSG00000123364
EnsemblGeneIds (GRCh37): ENSG00000123364
OMIM: 142976, Gene2Phenotype
HOXC13 is in 6 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted from red to green due to expert review and further evidence; it is a confirmed DD gene for pure hair and nail ectodermal dysplasia. More than 3 cases, and 3 different variants reported in OMIM in individuals from different ethnicities.
Created: 25 Jul 2016, 9:07 a.m.
Comment on mode of inheritance: Source: OMIM and Gene2Phenotype.
Created: 25 Jul 2016, 9:05 a.m.

John McGrath (King's College London)

Green List (high evidence)

Fine to retain for hair/nail ED
Created: 19 Nov 2015, 3:06 p.m.

Phenotypes
hair/nail Ectodermal dysplasia

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ectodermal dysplasia 9, hair/nail type, 614931
OMIM
142976
Clinvar variants
Variants in HOXC13
Penetrance
None
Panels with this gene

History Filter Activity

3 Jan 2019, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: HOXC13 was added gene: HOXC13 was added to Ectodermal dysplasia. Sources: Expert Review Green Mode of inheritance for gene: HOXC13 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HOXC13 were set to Ectodermal dysplasia 9, hair/nail type, 614931