HR

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

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green HR in Non-syndromic hypotrichosis

Level 3: Skin adnexa disorders
Level 2: Dermatological disorders
Version 1.9

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Other
Phenotypes
  • Hypotrichosis 4, 146550
  • HYPT4
  • Marie Unna hereditary hypotrichosis 1 (MUHH1)
  • Marie Unna hereditary hypotrichosis (MUHH)
Tags
  • promoter
  • curated-variant-list
  • non-coding-known-pathogenic

Green HR in Ectodermal dysplasia


Version 1.26
Latest signed off version: v1.10 (15 Oct 2020)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • HYPT4
  • Marie Unna hereditary hypotrichosis 1 (MUHH1)
  • Marie Unna hereditary hypotrichosis (MUHH)
  • Hypotrichosis 4, 146550

Green HR in Fetal anomalies


Version 1.717
Latest signed off version: v1.92 (21 Aug 2020)

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

Green HR in DDG2P


Version 2.44
Latest signed off version: v2.2 (13 Feb 2020)

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 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1282
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • 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

    Green HR in Severe Paediatric Disorders


    Version 1.84

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Alopecia universalis, 203655
    • Atrichia with papular lesions, 209500
    • Hypotrichosis 4, 146550