Non-syndromic hypotrichosis

Gene: KRT74

Green List (high evidence)

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

2 reviews

Rebecca Foulger (Genomics England curator)

Comment on list classification: Updated rating from Amber to Green: Although only 1 case of Hypotrichosis, there are additional Woolly hair cases that could be considered hypotrichosis (see Reviewer's comments).
Created: 20 Feb 2017, 2 p.m.
Comment on list classification: Updated rating from Red to Amber: 1 case of hypotrichosis (PMID:21188418), 1 case of ecotodermal dysplasia hair/nail (PMID:24714551, Alice previously commented that if ectodermal dysplasia is mild, the hypotrichosis could be the main presenting phenotype), and 2 Pakistani cases of Woolly hair.
Created: 16 Feb 2017, 9:46 a.m.
Comment on KRT74 from Celia Moss to support her Green rating of the gene: There are Pakistani families with woolly hair and this term is sometimes used synonymously with hypotrichosis (woolly hair is usually fine, short and sparse although hypotrichosis is not necessarily wooly). So I considered those families to have hypotrichosis.
Created: 16 Feb 2017, 9:42 a.m.
Comment on mode of inheritance: Mode of inheritance confirmed by PMID:21188418.
Created: 24 Jan 2017, 3:07 p.m.
In affected members of a consanguineous Pakistani family segregating autosomal dominant hypotrichosis simplex of the scalp (HYPT3; OMIM:613981), Wasif et al. (2011, PMID:21188418) identified a heterozygous 1444G-A transition in KRT74 (D482N). The mutation was not detected in 300 unrelated control individuals.
Created: 24 Jan 2017, 3:02 p.m.

Celia Moss (Birmingham Children's Hospital)

Green List (high evidence)

May be associated with nail abnormalities so not strictly non-syndromic
Created: 20 Jan 2017, 5:10 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hypotrichosis 3; Woolly hair, autosomal dominant

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Other
Phenotypes
  • hypotrichosis simplex of the scalp
  • Hypotrichosis 3, 613981
  • HYPT3
OMIM
608248
Clinvar variants
Variants in KRT74
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

20 Feb 2017, Gel status: 4

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

20 February 2017: Panel review was assessed, and panel was revised according to expert review and additional curation. Queried with the expert reviewer whether the 'Non-syndromic hypotrichosis' and 'cicatricial alopecia' panels should be combined based on overlapping phenotypes. Celia Moss commented that dermatologists consider cicatricial (scarring) alopecia distinct from simple hypotrichosis (in which there is no scarring); therefore have kept the panels separate.

20 Feb 2017, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for KRT74 were set to hypotrichosis simplex of the scalp; Hypotrichosis 3, 613981; HYPT3;

20 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

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

16 Feb 2017, Gel status: 2

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Amber List (Moderate Evidence).

24 Jan 2017, Gel status: 1

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for KRT74 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

24 Jan 2017, Gel status: 1

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for KRT74 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

29 Nov 2016, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

KRT74 was added to Non-syndromic hypotrichosispanel. Source: Radboud University Medical Center, Nijmegen

29 Nov 2016, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

KRT74 was created by rfoulger

29 Nov 2016, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

KRT74 was added to Non-syndromic hypotrichosispanel. Sources: Other