Mitochondrial disorders
Gene: RNASEH1

RNASEH1 (ribonuclease H1)
EnsemblGeneIds (GRCh38): ENSG00000171865
EnsemblGeneIds (GRCh37): ENSG00000171865
OMIM: 604123, Gene2Phenotype
RNASEH1 is in 6 panels

3 reviews

Carl Fratter (Oxford University Hospitals NHS Trust)

Green List (high evidence)

Created: 5 Nov 2017, 2:38 a.m.

Panel version: 0

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Created: 3 Feb 2016, 4:31 p.m.

Panel version: 0.16

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Both reviewers agree this gene should be promoted from red to green.
Created: 12 Feb 2016, 11:42 a.m.

Gene added during review by Carl Fratter (Oxford University Hospitals NHS Trust).
Created: 13 Nov 2015, 3:17 p.m.

Created: 13 Nov 2015, 3:17 p.m.

Panel version: 0

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Victorian Clinical Genetics Services
Expert Review Green
Expert Review

Phenotypes

Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2

OMIM

604123

Clinvar variants

Variants in RNASEH1

Penetrance

Complete

Publications

Reyes et al., 2005, Am. J. Hum. Genet., 97, 186-193.

Panels with this gene

History Filter Activity

28 Aug 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

Victorian Clinical Genetics Services was added to RNASEH1. Panel: Mitochondrial disorders

12 Feb 2016, Gel status: 4