Ectodermal dysplasia

Gene: HR

Green List (high evidence)

HR (HR, lysine demethylase and nuclear receptor corepressor)
EnsemblGeneIds (GRCh38): ENSG00000168453
EnsemblGeneIds (GRCh37): ENSG00000168453
OMIM: 602302, Gene2Phenotype
HR is in 6 panels

2 reviews

Rebecca Foulger (Genomics England curator)

Comment on list classification: Updated rating from Red to Green after clinical discussion: 1 Green review, multiple 5'UTR HR variants causing Hypotrichosis (146550). Plus >3 cases of HR variants causing Atrichia with papular lesions, which includes 'Hypotrichosis' as a phenotype.
Created: 2 Feb 2017, 4 p.m.
Added the tags 'non-coding known pathogenic', 'promoter' and 'curated variant list' based on the 4 reported variants in OMIM, all of which are reported to be in the 5'UTR of HR (in an ORF designated U2HR which encodes a (predicted?) peptide which modulates the translation of HR mRNA), with pathogenic clinical significance (rs267606869, rs267606868, rs267606867, rs387906382). See PMID:26269244, 24261346 etc for discussion of the U2HR ORF.
Created: 2 Feb 2017, 3:56 p.m.
Comment on mode of pathogenicity: Hypotrichosis 4 (OMIM:146550, also called Marie Unna hereditary hypotrichosis) is caused by mutations in an ORF (designated U2HR) in the 5'UTR of the HR gene. The ORF appears to encode a short peptide which controls the translation of HR mRNA.
Created: 24 Jan 2017, 4:24 p.m.
Comment on phenotypes: Mutations in the HR gene are also causative of Alopecia universalis (OMIM:203655) and Atrichia with papular lesions (OMIM:209500), both with biallelic inheritance. For Atrichia with papular lesions (OMIM:209500), 'Hypotrichosis' iis recorded in the OMIM Clinical synopsis.
Created: 24 Jan 2017, 4:03 p.m.
Comment on mode of inheritance: Mode of inheritance confirmed by OMIM.
Created: 23 Jan 2017, 4:38 p.m.

Celia Moss (Birmingham Children's Hospital)

Green List (high evidence)

Well established
Created: 20 Jan 2017, 5:01 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Alopecia universalis; Atrichia with papular lesions; Hypotrichosis 4

Details

Mode of Inheritance
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
OMIM
602302
Clinvar variants
Variants in HR
Penetrance
None
Mode of Pathogenicity
Other - please provide details in the comments
Panels with this gene

History Filter Activity

3 Jan 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes, Set mode of pathogenicity

Ellen McDonagh (Genomics England Curator)

gene: HR was added gene: HR was added to Ectodermal dysplasia. Sources: Expert Review Green Mode of inheritance for gene: HR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: HR were set to HYPT4; Marie Unna hereditary hypotrichosis 1 (MUHH1); Marie Unna hereditary hypotrichosis (MUHH); Hypotrichosis 4, 146550 Mode of pathogenicity for gene: HR was set to Other - please provide details in the comments