HR:Ensemblv90

HR, lysine demethylase and nuclear receptor corepressor
OMIM: 602302, ClinGen, DECIPHER

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green HR in Mendeliome


Version 1.3802

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Alopecia universalis MIM#203655
  • Atrichia with papular lesions MIM#209500

Green HR in Ectodermal Dysplasia


Level 2: Dermatological disorders
Version 0.103

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Alopecia universalis MIM#203655
  • Atrichia with papular lesions MIM#209500

Green HR in Hair disorders


Level 2: Dermatological disorders
Version 0.81

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Alopecia universalis MIM#203655
  • Atrichia with papular lesions MIM#209500

Red HR in Fetal anomalies


Version 1.482

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Atrichia with papular lesions MIM#209500

Green HR in Facial papules


Level 2: Dermatological disorders
Version 1.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • atrichia with papular lesions MONDO:0008847

Green HR in Ectodermal Dysplasia


Level 2: Dermatological disorders
Version 1.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Alopecia universalis MIM#203655
  • Atrichia with papular lesions MIM#209500

Green HR in Hair disorders


Level 2: Dermatological disorders
Version 1.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Alopecia universalis MIM#203655
  • Atrichia with papular lesions MIM#209500

Green HR in Facial papules


Level 2: Dermatological disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • atrichia with papular lesions MONDO:0008847