HR

HR, lysine demethylase and nuclear receptor corepressor
OMIM: 602302, Gene2Phenotype

5 panels

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

Level 3: Skin adnexa disorders
Level 2: Dermatological disorders
Version 1.15

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Other
Phenotypes
  • Alopecia universalis, OMIM:203655
  • Atrichia with papular lesions, OMIM:209500
Tags
  • promoter
  • curated-variant-list
  • non-coding-known-pathogenic
Green HR in Ectodermal dysplasia


Level 2: Dermatology
Version 4.23
Latest signed off version: v4.0 (30 Apr 2025)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Marie Unna hereditary hypotrichosis (MUHH)
  • Alopecia universalis, OMIM:203655
  • Atrichia with papular lesions, OMIM:209500
Green HR in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.140
Latest signed off version: v6.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ATRICHIA WITH PAPULAR LESIONS
  • ALOPECIA UNIVERSALIS
Green HR in DDG2P


Version 6.424
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • ALOPECIA UNIVERSALIS 146550
    • ATRICHIA WITH PAPULAR LESIONS 209500
    Red HR in Intellectual disability


    Level 2: Developmental disorders
    Version 9.279
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Alopecia universalis, 203655
    • Atrichia with papular lesions, 209500
    • Hypotrichosis 4, 146550