RNASEH2A

Red RNASEH2A in Juvenile dermatomyositis

Level 3: Multi-system inflammatory/autoimmune disorders
Level 2: Rheumatological disorders
Version 1.3

Sources

• Expert list

Phenotypes

• Aicardi Goutieres Syndrome

Green RNASEH2A in COVID-19 research

Level 2: Viral research
Version 1.142

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

Version 4.4
Latest signed off version: v4.0 (22 Mar 2023)

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 1.147

Sources

• Emory Genetics Laboratory

Phenotypes

• Dystonia

Green RNASEH2A in White matter disorders and cerebral calcification - narrow panel

Version 3.35
Latest signed off version: v3.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Green

Phenotypes

• Aicardi-Goutieres syndrome 4
• Aicardi-Goutieres Syndrome
• General Leukodystrophy & Mitochondrial Leukoencephalopathy

Green RNASEH2A in Adult onset leukodystrophy

Version 3.24
Latest signed off version: v3.0 (22 Mar 2023)

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

Version 4.202
Latest signed off version: v4.0 (22 Mar 2023)

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 1.35

Sources

• Expert Review Green
• Emory Genetics Laboratory
• Illumina TruGenome Clinical Sequencing Services
• UKGTN
• Other
• Eligibility statement prior genetic testing

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 1.180

Sources

• Expert Review Green
• Expert list

Phenotypes

• Aicardi-Goutieres Syndrome
• General Leukodystrophy & Mitochondrial Leukoencephalopathy

Red RNASEH2A in Adult onset neurodegenerative disorder

Version 4.47
Latest signed off version: v4.34 (31 Jul 2023)

Sources

• Expert Review Red

Phenotypes

• Dystonia

Red RNASEH2A in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.617

Sources

• Expert Review Red
• Literature

Phenotypes

• (Disorders of nucleotide metabolism, Aicardi-Gouti res Syndrome) AGS4
• Inherited white matter disorders
• Intellectual disability
• Intracerebral calcification disorders

Red RNASEH2A in Likely inborn error of metabolism - targeted testing not possible

Version 4.137
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Red
• London North GLH
• NHS GMS

Phenotypes

• Intellectual disability
• Intracerebral calcification disorders
• (Disorders of nucleotide metabolism, Aicardi-Gouti res Syndrome) AGS4
• Inherited white matter disorders

Tags

• Q1_24_promote_green
• Q1_24_NHS_review

Green RNASEH2A in Fetal anomalies

Version 3.169
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• PAGE DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• AICARDI-GOUTIERES SYNDROME 4

Green RNASEH2A in DDG2P

Version 3.90
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

Sources

• DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• AICARDI-GOUTIERES SYNDROME 4 610333

Green RNASEH2A in Early onset or syndromic epilepsy

Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 4.196
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

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 - microarray and sequencing

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.550
Latest signed off version: v5.0 (22 Mar 2023)

Component of the following Super Panels:

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

Version 3.18
Latest signed off version: v3.12 (31 Jul 2023)

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

Version 3.78
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• Expert Review Amber
• South West GLH
• London North GLH

Phenotypes

• Aicardi-Goutieres syndrome 4, 610333

Green RNASEH2A in Severe Paediatric Disorders

Version 1.184

Sources

• Next Generation Children Project
• Expert Review Green
• Expert list

Phenotypes

• Aicardi-Goutieres syndrome 4, 610333