Genomics England
GMS Panels
Panels
Genes and Entities

HR

HR, lysine demethylase and nuclear receptor corepressor
OMIM: 602302
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ALOPECIA UNIVERSALIS 146550, ATRICHIA WITH PAPULAR LESIONS 209500
Green
in Ectodermal dysplasia
R-numbers: R163
Signed-off version 1.10
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
HYPT4, Marie Unna hereditary hypotrichosis 1 (MUHH1), Marie Unna hereditary hypotrichosis (MUHH), Hypotrichosis 4, 146550
Green
in Fetal anomalies
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ATRICHIA WITH PAPULAR LESIONS, ALOPECIA UNIVERSALIS