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Hair disorders

Gene: HOXC13

Green List (high evidence)
HOXC13 (homeobox C13)
EnsemblGeneIds (GRCh38): ENSG00000123364
EnsemblGeneIds (GRCh37): ENSG00000123364
OMIM: 142976, Gene2Phenotype
HOXC13 is in 3 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

4 unrelated families with 4 different homozygous variants with hair abnormalities as a feature of the disease phenotype.
Sources: Literature
Created: 31 Jul 2020, 12:38 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ectodermal dysplasia 9, hair/nail type MIM#614931

Publications

Created: 31 Jul 2020, 12:38 a.m.

Panel version: 0.33

Details

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

History Filter Activity

31 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: hoxc13 has been classified as Green List (High Evidence).

31 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: hoxc13 has been classified as Green List (High Evidence).

31 Jul 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: HOXC13 was added gene: HOXC13 was added to Hair disorders. Sources: Literature Mode of inheritance for gene: HOXC13 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HOXC13 were set to 23063621; 23315978; 29278420 Phenotypes for gene: HOXC13 were set to Ectodermal dysplasia 9, hair/nail type MIM#614931 Review for gene: HOXC13 was set to GREEN