Possible mitochondrial disorder - nuclear genes
Gene: RNASEH1
RNASEH1 (ribonuclease H1)
EnsemblGeneIds (GRCh38): ENSG00000171865
EnsemblGeneIds (GRCh37): ENSG00000171865
OMIM: 604123, Gene2Phenotype
RNASEH1 is in 6 panels
EnsemblGeneIds (GRCh38): ENSG00000171865
EnsemblGeneIds (GRCh37): ENSG00000171865
OMIM: 604123, Gene2Phenotype
RNASEH1 is in 6 panels
4 reviews
Ivone Leong (Genomics England Curator)
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.Created: 4 Feb 2019, 1:36 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2
Carl Fratter (Oxford University Hospitals NHS Trust)
Shamima Rahman (UCL Institute of Child Health)
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.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2
- OMIM
- 604123
- Clinvar variants
- Variants in RNASEH1
- Penetrance
- None
- Panels with this gene
History Filter Activity
4 Feb 2019, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: RNASEH1 was added gene: RNASEH1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: RNASEH1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RNASEH1 were set to Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2