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Non-syndromic hypotrichosis

Gene: KRT71

Red List (low evidence)
KRT71 (keratin 71)
EnsemblGeneIds (GRCh38): ENSG00000139648
EnsemblGeneIds (GRCh37): ENSG00000139648
OMIM: 608245, Gene2Phenotype
KRT71 is in 2 panels

2 reviews

Rebecca Foulger (Genomics England curator)

Comment when marking as ready: Human KRT71 hypotrichosis mutations currently only reported in 1 family (PMID:22592156), therefore rating remains as red.
Created: 23 Jan 2017, 3:52 p.m.
PMID:22592156 (Fujimoto et al., 2012) identify heterozygosity for a c.422T-G transversion in KRT71 in 3 affected members of a Japenese family with HYPT13 (OMIM:615896).
Created: 23 Jan 2017, 3:49 p.m.
Created: 23 Jan 2017, 3:49 p.m.

Panel version: 0.9

Celia Moss (Birmingham Children's Hospital)

Red List (low evidence)

Good animal evidence but limited in humans (one family)
Created: 21 Jan 2017, 11:32 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
woolly hair; hypotrichosis

Created: 21 Jan 2017, 11:32 a.m.

Panel version: 0.2

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Other
Phenotypes
  • ?Hypotrichosis 13, 615896
  • HYPT13
  • woolly hair
  • hypotrichosis
OMIM
608245
Clinvar variants
Variants in KRT71
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

20 Feb 2017, Gel status: 1

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.

23 Jan 2017, Gel status: 1

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

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

23 Jan 2017, Gel status: 1

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for KRT71 were set to ?Hypotrichosis 13, 615896; HYPT13; woolly hair; hypotrichosis

23 Jan 2017, Gel status: 1

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for KRT71 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

29 Nov 2016, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

KRT71 was added to Non-syndromic hypotrichosispanel. Source: Radboud University Medical Center, Nijmegen

29 Nov 2016, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

KRT71 was added to Non-syndromic hypotrichosispanel. Sources: Other

29 Nov 2016, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

KRT71 was created by rfoulger