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Facial papules

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 5 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Facial papules can be a feature of the condition.
Sources: Literature
Created: 19 Jun 2023, 1:32 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
atrichia with papular lesions MONDO:0008847

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 19 Jun 2023, 1:32 a.m.

Panel version: 0.26

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • atrichia with papular lesions MONDO:0008847
OMIM
602302
Clinvar variants
Variants in HR
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Jun 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: hr has been classified as Green List (High Evidence).

19 Jun 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: hr has been classified as Green List (High Evidence).

19 Jun 2023, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: HR was added gene: HR was added to Facial papules. Sources: Literature Mode of inheritance for gene: HR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HR were set to 12271294; 9856480; 10205263; 17869066 Phenotypes for gene: HR were set to atrichia with papular lesions MONDO:0008847 Review for gene: HR was set to GREEN gene: HR was marked as current diagnostic