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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 5 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

Papillary lesions over most of the body and almost complete absence of hair are features.
Created: 8 Nov 2021, 6:02 a.m. | Last Modified: 8 Nov 2021, 6:02 a.m.
Panel Version: 0.57

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Alopecia universalis MIM#203655; Atrichia with papular lesions MIM#209500

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

Created: 8 Nov 2021, 6:02 a.m.
Last Modified: 8 Nov 2021, 6:02 a.m.
Panel version: 0.57

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Alopecia universalis MIM#203655
  • Atrichia with papular lesions MIM#209500
OMIM
602302
Clinvar variants
Variants in HR
Penetrance
None
Panels with this gene

History Filter Activity

8 Nov 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

8 Nov 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: HR were changed from Hypotrichosis 4, Atrichia with papular lesions, Alopecia universalis congenita to Alopecia universalis MIM#203655; Atrichia with papular lesions MIM#209500

8 Nov 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: HR was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

14 Jan 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: HR was added gene: HR was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: HR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: HR were set to Hypotrichosis 4, Atrichia with papular lesions, Alopecia universalis congenita