ADAR

Green ADAR in COVID-19 research

Level 2: Viral research
Version 1.130

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

• Fever Syndromes and Related Diseases, Aicardi-Goutieres syndrome 6, 615010
• Type 1 interferonopathies
• Autoinflammatory Disorders
• AGS6
• Classical AGS, BSN, SP

Green ADAR in Early onset dystonia

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.117

Sources

• Expert Review Green
• Emory Genetics Laboratory

Phenotypes

• Aicardi-Goutieres syndrome 6, 615010
• dystonia

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

Version 1.241
Latest signed off version: v1.12 (2 Mar 2020)

Component of the following Super Panels:

Sources

• Expert Review Green

Phenotypes

• Aicardi-Goutieres Syndrome
• General Leukodystrophy & Mitochondrial Leukoencephalopathy
• Aicardi-Goutieres syndrome
• Aicardi-Gouti res, isolated spasticity, bilateral striatal necrosis
• Aicardi-Goutieres syndrome 6

Green ADAR in Pigmentary skin disorders

Version 1.50
Latest signed off version: v1.4 (15 Oct 2020)

Sources

• London North GLH
• NHS GMS
• Expert Review Green

Phenotypes

• AGS6
• DYSCHROMATOSIS SYMMETRICA HEREDITARIA
• DSH, AICARDI-GOUTIERES SYNDROME 6
• Dyschromatosis symmetrica hereditaria (AKA reticulate acropigmentation of Dohi)

Green ADAR in White matter disorders - adult onset

Version 1.43
Latest signed off version: v1.25 (5 Aug 2021)

Sources

• Expert Review Green
• NHS GMS
• Yorkshire and North East GLH

Phenotypes

• Aicardi-Goutieres syndrome 6, 615010

Green ADAR in Primary immunodeficiency

Version 2.573
Latest signed off version: v2.1 (24 Feb 2020)

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

• Fever Syndromes and Related Diseases, Aicardi-Goutieres syndrome 6, 615010
• AGS6
• Type 1 interferonopathies
• Classical AGS, BSN, SP
• Autoinflammatory Disorders

Green ADAR in Structural basal ganglia disorders

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.32

Sources

• Expert Review Green
• Literature

Phenotypes

• Aicardi-Goutieres syndrome 6 615010

Green ADAR in Intracerebral calcification disorders

Level 3: Parenchymal brain disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.34

Sources

• Eligibility statement prior genetic testing
• UKGTN
• Expert Review Green
• Radboud University Medical Center, Nijmegen
• Expert list

Phenotypes

• Aicardi-Goutieres syndrome 6
• Aicardi-Goutieres syndrome
• Aicardi-Goutières, isolated spasticity, bilateral striatal necrosis

Green ADAR in Inherited white matter disorders

Level 3: White matter disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.159

Sources

• Expert Review Green
• Expert list

Phenotypes

• Aicardi-Goutieres Syndrome
• General Leukodystrophy & Mitochondrial Leukoencephalopathy

Green ADAR in Hereditary spastic paraplegia

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.295

Sources

• Expert Review Green
• Expert Review

Phenotypes

• Aicardi-Goutieres syndrome 6, 615010

Green ADAR in Hereditary spastic paraplegia - childhood onset

Version 2.145
Latest signed off version: v2.18 (8 Oct 2020)

Sources

• Yorkshire and North East GLH
• NHS GMS
• London North GLH
• Expert Review Green
• Expert Review

Phenotypes

• Aicardi-Goutieres syndrome 6, 615010

Green ADAR in Hereditary spastic paraplegia - adult onset

Version 1.102
Latest signed off version: v1.27 (5 Aug 2021)

Sources

• Yorkshire and North East GLH
• Expert Review Green
• NHS GMS
• London North GLH

Phenotypes

• Aicardi-Goutieres syndrome 6, 615010 autosomal recessive
• Dyschromatosis symmetrica hereditaria, autosomal dominant, 127400

Red ADAR in Neurodegenerative disorders - adult onset

Version 2.275
Latest signed off version: v2.178 (5 Aug 2021)

Sources

• Expert Review Red
• Wessex and West Midlands GLH
• Yorkshire and North East GLH
• NHS GMS
• London North GLH

Phenotypes

• Aicardi-Goutieres syndrome 6, 615010
• dystonia

Green ADAR in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.542

Sources

• Expert Review Green
• Literature

Phenotypes

• Aicardi-Goutieres syndrome 6 615010
• Dyschromatosis symmetrica hereditaria 127400

Green ADAR in Inborn errors of metabolism

Version 2.263
Latest signed off version: v2.3 (17 Feb 2020)

Component of the following Super Panels:

Sources

• London North GLH
• NHS GMS
• Expert Review Green

Phenotypes

• Aicardi-Goutieres syndrome 6

Green ADAR in Fetal anomalies

Version 1.904
Latest signed off version: v1.92 (21 Aug 2020)

Sources

• PAGE DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• DYSCHROMATOSIS SYMMETRICA HEREDITARIA 1
• AICARDI-GOUTIERES SYNDROME ASSOCIATED WITH A TYPE I INTERFERON SIGNATURE

Green ADAR in DDG2P

Version 2.78
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

Sources

• DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• AICARDI-GOUTIERES SYNDROME ASSOCIATED WITH A TYPE I INTERFERON SIGNATURE 615010
• DYSCHROMATOSIS SYMMETRICA HEREDITARIA 1 127400

Green ADAR in Genetic epilepsy syndromes

Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 2.572
Latest signed off version: v2.2 (13 Feb 2020)

Sources

• Wessex and West Midlands GLH
• NHS GMS
• Expert Review Green
• Victorian Clinical Genetics Services

Phenotypes

• Aicardi-Goutieres syndrome 6 615010

Green ADAR in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.1677
Latest signed off version: v3.2 (13 Feb 2020)

Component of the following Super Panels:

Sources

• Victorian Clinical Genetics Services
• Expert Review Green
• Radboud University Medical Center, Nijmegen

Phenotypes

• Dyschromatosis symmetrica hereditaria, 127400Aicardi-Goutieres syndrome 6, 615010
• DYSCHROMATOSIS SYMMETRICA HEREDITARIA 1

Red ADAR in Adult onset movement disorder

Version 1.170
Latest signed off version: v1.121 (5 Aug 2021)

Sources

• Expert Review Red
• NHS GMS
• London North GLH

Phenotypes

• dystonia
• Aicardi-Goutieres syndrome 6, 615010

Green ADAR in Childhood onset dystonia or chorea or related movement disorder

Version 1.246
Latest signed off version: v1.137 (5 Aug 2021)

Sources

• PanelApp
• Expert Review Green
• London North GLH

Phenotypes

• Aicardi-Goutieres syndrome 6, 615010
• dystonia

Green ADAR in Severe Paediatric Disorders

Version 1.127

Sources

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

Phenotypes

• Aicardi-Goutieres syndrome 6, 615010
• Dyschromatosis symmetrica hereditaria, 127400