KRT74

keratin 74
OMIM: 608248, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Green KRT74 in Non-syndromic hypotrichosis

Level 3: Skin adnexa disorders
Level 2: Dermatological disorders
Version 1.13

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Other
Phenotypes
  • Hypotrichosis 3, OMIM:613981
  • HYPT3
Green KRT74 in Ectodermal dysplasia


Version 3.28
Latest signed off version: v3.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Woolly hair, autosomal dominant, OMIM:194300 (AD)
  • ?Hypotrichosis 3, OMIM:613981 (AD)
  • ?Ectodermal dysplasia 7, hair/nail type, OMIM:614929 (AR)
Tags
  • watchlist_moi
Green KRT74 in Ectodermal dysplasia without a known gene mutation

Level 3: Ectodermal dysplasias
Level 2: Dermatological disorders
Version 1.27

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Literature
Phenotypes
  • Woolly hair, autosomal dominant, OMIM:194300 (AD)
  • ?Hypotrichosis 3, OMIM:613981 (AD)
  • ?Ectodermal dysplasia 7, hair/nail type, OMIM:614929 (AR)
Amber KRT74 in Fetal anomalies


Version 3.135
Latest signed off version: v3.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • HYPOTRICHOSIS SIMPLEX OF THE SCALP 2
Green KRT74 in DDG2P


Version 3.79
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • HYPOTRICHOSIS SIMPLEX OF THE SCALP 2 613981