1. Panels
  2. Ectodermal Dysplasia
  3. HOXC13
STRs in panel
Prev Next
Regions in panel
Prev Next

Ectodermal Dysplasia

Gene: HOXC13

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Four unrelated families reported.
Created: 3 Jan 2022, 9:45 p.m. | Last Modified: 3 Jan 2022, 9:45 p.m.
Panel Version: 0.61

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 3 Jan 2022, 9:45 p.m.
Last Modified: 3 Jan 2022, 9:45 p.m.
Panel version: 0.61

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: Imported from Mendeliome panel version Imported from Hair disorders panel version 0.33

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Royal Melbourne Hospital
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

3 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

3 Jan 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: HOXC13 were changed from Ectodermal dysplasia 9 to Ectodermal dysplasia 9, hair/nail type MIM#614931

3 Jan 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: HOXC13 were set to

14 Jan 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: HOXC13 was added gene: HOXC13 was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,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