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Fetal anomalies

Gene: HR

Red List (low 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)

Red List (low evidence)

Papillary lesions over most of the body and almost complete absence of hair are features.
Created: 8 Nov 2021, 1:45 a.m. | Last Modified: 8 Nov 2021, 1:45 a.m.
Panel Version: 0.152

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Atrichia with papular lesions MIM#209500

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • 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: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hr has been classified as Red List (Low Evidence).

8 Nov 2021, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: HR were changed from ATRICHIA WITH PAPULAR LESIONS; ALOPECIA UNIVERSALIS to Atrichia with papular lesions MIM#209500

8 Nov 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hr has been classified as Red List (Low Evidence).

24 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: HR was added gene: HR was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: HR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HR were set to ATRICHIA WITH PAPULAR LESIONS; ALOPECIA UNIVERSALIS