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  3. HOXC13
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Ectodermal dysplasia without a known gene mutation

Gene: HOXC13

Green List (high evidence)
HOXC13 (homeobox C13)
EnsemblGeneIds (GRCh38): ENSG00000123364
EnsemblGeneIds (GRCh37): ENSG00000123364
OMIM: 142976, Gene2Phenotype
HOXC13 is in 5 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.
Created: 25 Jul 2016, 9:07 a.m.

Panel version: 0.90

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

Created: 19 Nov 2015, 3:06 p.m.

Panel version: 0

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ectodermal dysplasia 9, hair/nail type, 614931
OMIM
142976
Clinvar variants
Variants in HOXC13
Penetrance
Complete
Panels with this gene

History Filter Activity

10 Aug 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 10th August 2016

25 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

25 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

25 Jul 2016, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for HOXC13 was changed to BIALLELIC, autosomal or pseudoautosomal

8 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

HOXC13 was added to Ectodermal dysplasia without a known gene mutationpanel. Sources: Radboud University Medical Center, Nijmegen