1. Genes and Genomic Entities
  2. HR

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 1.13

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Other
Phenotypes
  • Marie Unna hereditary hypotrichosis (MUHH)
  • Alopecia universalis, OMIM:203655
Tags
  • promoter
  • curated-variant-list
  • non-coding-known-pathogenic
Green HR in Ectodermal dysplasia


Version 3.29
Latest signed off version: v3.0 (22 Mar 2023)

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


Version 3.169
Latest signed off version: v3.0 (22 Mar 2023)

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


Version 3.90
Latest signed off version: v3.1 (22 Mar 2023)

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 - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.557
    Latest signed off version: v5.0 (22 Mar 2023)

    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
    Green HR in Severe Paediatric Disorders


    Version 1.184

    		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