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Mendeliome

Gene: RNASEH1

Green List (high evidence)

RNASEH1 (ribonuclease H1)
EnsemblGeneIds (GRCh38): ENSG00000171865
EnsemblGeneIds (GRCh37): ENSG00000171865
OMIM: 604123, Gene2Phenotype
RNASEH1 is in 2 panels

1 review

Belinda Chong (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID 26094573: In 2 unrelated men and affected members of a third unrelated family with autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions-2. Fibroblasts derived from 1 of the patients showed decreased RNASEH1 transcripts and protein levels, as well as defects in mtDNA replication. In vitro functional expression studies showed that all the mutations resulted in decreased or absent RNASEH1 activity, consistent with a loss of function.

PMID 3125855: Reported the case of a patient with PEO and multiple mtDNA deletions, with two mutations in RNASEH1.
Created: 13 May 2022, 7:07 a.m. | Last Modified: 13 May 2022, 7:07 a.m.
Panel Version: 0.14244

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 MIM#616479

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 MIM#616479
OMIM
604123
Clinvar variants
Variants in RNASEH1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 May 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rnaseh1 has been classified as Green List (High Evidence).

16 May 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RNASEH1 were changed from to Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 MIM#616479

16 May 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RNASEH1 were set to

16 May 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: RNASEH1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RNASEH1 was added gene: RNASEH1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RNASEH1 was set to Unknown