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RNASEH1

ribonuclease H1
OMIM: 604123, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green RNASEH1 in Mitochondrial DNA maintenance disorder Level 2: Mitochondrial Version 3.10 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2
Green RNASEH1 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.645	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2
Green RNASEH1 in Likely inborn error of metabolism Level 2: Metabolic Version 9.29 Latest signed off version: v9.0 (6 May 2026) Component of the following Super Panels: Hypotonic infant Leukodystrophy, childhood onset Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2
Green RNASEH1 in Possible mitochondrial disorder, nuclear genes Level 2: Mitochondrial Version 5.17 Latest signed off version: v5.0 (6 May 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2
Green RNASEH1 in Mitochondrial disorders Level 2: Mitochondrial Version 10.18 Latest signed off version: v10.0 (6 May 2026) Component of the following Super Panels: Leukodystrophy, childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Expert Review Literature Phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2
Red RNASEH1 in Dystonia, chorea or related movement disorder, childhood onset Level 2: Neurology Version 8.13 Latest signed off version: v8.0 (6 May 2026)	review	Not set	Sources Expert Review Red London North GLH