Ectodermal dysplasia without a known gene mutation

Gene: KRT74

Red List (low evidence)

KRT74 (keratin 74)
EnsemblGeneIds (GRCh38): ENSG00000170484
EnsemblGeneIds (GRCh37): ENSG00000170484
OMIM: 608248, Gene2Phenotype
KRT74 is in 5 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. Only one variant reported in Ectodermal dysplasia 7, hair/nail type 614929
Created: 10 Aug 2016, 9:22 a.m.
Comment on phenotypes: Also associated with Hypotrichosis 3 613981 and Woolly hair, autosomal dominant 194300
Created: 10 Aug 2016, 9:21 a.m.

Ellen McDonagh (Genomics England Curator)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pure hair and nail ectodermal dysplasia (PHNED)

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Literature
Phenotypes
  • Pure hair and nail ectodermal dysplasia (PHNED) Ectodermal dysplasia 7, hair/nail type 614929
OMIM
608248
Clinvar variants
Variants in KRT74
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

10 Aug 2016, Gel status: 1

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 10th August 2016

10 Aug 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

10 Aug 2016, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for KRT74 were set to Pure hair and nail ectodermal dysplasia (PHNED) Ectodermal dysplasia 7, hair/nail type 614929

10 Aug 2016, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for KRT74 were set to Ectodermal dysplasia 7, hair/nail type 614929

10 Aug 2016, Gel status: 1

Upload gene information

Sarah Leigh (Genomics England Curator)

KRT74 was added to Ectodermal dysplasia without a known gene mutationpanel. Sources: Radboud University Medical Center, Nijmegen

25 Jul 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

KRT74 was created by ellenmcdonagh

25 Jul 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

KRT74 was added to Ectodermal dysplasia without a known gene mutationpanel. Sources: Literature