Fetal anomalies
Gene: HR

HR (HR, lysine demethylase and nuclear receptor corepressor)
EnsemblGeneIds (GRCh38): ENSG00000168453
EnsemblGeneIds (GRCh37): ENSG00000168453
OMIM: 602302, Gene2Phenotype
HR is in 5 panels

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
Created: 24 Mar 2019, 4:30 p.m.

DDG2P rating in original PAGE list: Confirmed for ALOPECIA UNIVERSALIS and Confirmed for ATRICHIA WITH PAPULAR LESIONS.
Created: 11 Dec 2018, 9:05 a.m.

In the original PAGE file, MOP listed as LOF for ATRICHIA WITH PAPULAR LESIONS, and listed as All missense/in frame for ALOPECIA UNIVERSALIS.
Created: 8 Nov 2018, 4:45 p.m.

Created: 8 Nov 2018, 4:45 p.m.

Panel version: 0.134

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

PAGE DD-Gene2Phenotype
Expert Review Green

Phenotypes

ATRICHIA WITH PAPULAR LESIONS
ALOPECIA UNIVERSALIS

OMIM

602302

Clinvar variants

Variants in HR

Penetrance

None

Panels with this gene

History Filter Activity

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes ATRICHIA WITH PAPULAR LESIONS for gene: HR

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: HR was added gene: HR was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: HR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HR were set to ALOPECIA UNIVERSALIS

Fetal anomalies Gene: HR