RNASEH2A

ribonuclease H2 subunit A
OMIM: 606034, Gene2Phenotype

18 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 18 panels
Red RNASEH2A in Juvenile dermatomyositis Level 3: Multi-system inflammatory/autoimmune disorders Level 2: Rheumatological disorders Version 1.4	review	Not set	Sources Expert list Phenotypes Aicardi Goutieres Syndrome
Green RNASEH2A in COVID-19 research Level 2: Viral research Version 1.146	review	BIALLELIC, autosomal or pseudoautosomal	Sources IUIS Classification February 2018 London North GLH NHS GMS GRID V2.0 Victorian Clinical Genetics Services North West GLH ESID Registry 20171117 Expert Review Green NHS GMS North West GLH London North GLH IUIS Classification February 2018 Victorian Clinical Genetics Services Expert Review Green ESID Registry 20171117 GRID V2.0 Phenotypes Autoinflammatory Disorders Classical AGS Aicardi-Goutieres syndrome 4 610333, Lupus Type 1 interferonopathies
Red RNASEH2A in Hydrocephalus Level 2: Neurology Version 5.8 Latest signed off version: v5.0 (7 Aug 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Red Literature Phenotypes Aicardi-Goutieres syndrome 4
Red RNASEH2A in Early onset dystonia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.152	review	Not set	Sources Emory Genetics Laboratory Phenotypes Dystonia
Green RNASEH2A in White matter disorders and cerebral calcification - narrow panel Level 2: Neurology Version 7.13 Latest signed off version: v7.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Aicardi-Goutieres syndrome 4 Aicardi-Goutieres Syndrome General Leukodystrophy & Mitochondrial Leukoencephalopathy
Green RNASEH2A in Adult onset leukodystrophy Level 2: Neurology Version 6.8 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Phenotypes Aicardi-Goutieres syndrome 4, 610333
Green RNASEH2A in Primary immunodeficiency or monogenic inflammatory bowel disease Level 2: Immunology Version 8.78 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS North West GLH London North GLH IUIS Classification February 2018 Victorian Clinical Genetics Services Expert Review Green ESID Registry 20171117 GRID V2.0 Phenotypes Aicardi-Goutieres syndrome 4 610333, Lupus Type 1 interferonopathies Classical AGS Autoinflammatory Disorders
Green RNASEH2A in Intracerebral calcification disorders Level 3: Parenchymal brain disorders Level 2: Neurology and neurodevelopmental disorders Version 1.36	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Eligibility statement prior genetic testing UKGTN Other Phenotypes Aicardi-Goutieres syndrome 4 Aicardi-Goutieres Syndrome
Green RNASEH2A in Inherited white matter disorders Level 3: White matter disorders Level 2: Neurology and neurodevelopmental disorders Version 1.186	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Aicardi-Goutieres Syndrome General Leukodystrophy & Mitochondrial Leukoencephalopathy
Red RNASEH2A in Adult onset neurodegenerative disorder Level 2: Neurology Version 8.11 Latest signed off version: v8.0 (30 Apr 2025)	review	Unknown	Sources Expert Review Red Phenotypes Dystonia
Red RNASEH2A in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.642	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes (Disorders of nucleotide metabolism, Aicardi-Gouti res Syndrome) AGS4 Inherited white matter disorders Intellectual disability Intracerebral calcification disorders
Green RNASEH2A in Likely inborn error of metabolism Level 2: Metabolic Version 8.91 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Intellectual disability Intracerebral calcification disorders (Disorders of nucleotide metabolism, Aicardi-Gouti res Syndrome) AGS4 Inherited white matter disorders
Green RNASEH2A in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes AICARDI-GOUTIERES SYNDROME 4
Green RNASEH2A in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes AICARDI-GOUTIERES SYNDROME 4 610333
Green RNASEH2A in Early onset or syndromic epilepsy Level 2: Neurology Version 8.125 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Aicardi-Goutieres syndrome 4, 610333
Green RNASEH2A in Intellectual disability Level 2: Developmental disorders Version 9.285 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Aicardi-Goutieres syndrome 4, 610333 AICARDI-GOUTIERES SYNDROME 4
Red RNASEH2A in Adult onset dystonia, chorea or related movement disorder Level 2: Neurology Version 5.3 Latest signed off version: v5.0 (30 Apr 2025)	review	Not set	Sources NHS GMS South West GLH Expert Review Red Phenotypes Aicardi-Goutieres syndrome 4, 610333 Dystonia
Amber RNASEH2A in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.13 Latest signed off version: v7.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber South West GLH London North GLH Phenotypes Aicardi-Goutieres syndrome 4, 610333