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 4.15
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ALOPECIA UNIVERSALIS 146550, ATRICHIA WITH PAPULAR LESIONS 209500
Green
in Ectodermal dysplasia
R-numbers: R163
Signed-off version 3.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Marie Unna hereditary hypotrichosis (MUHH), Alopecia universalis, OMIM:203655, Atrichia with papular lesions, OMIM:209500
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.195
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ATRICHIA WITH PAPULAR LESIONS, ALOPECIA UNIVERSALIS