ADAR

adenosine deaminase, RNA specific
OMIM: 146920, Gene2Phenotype

21 panels

Panel Reviews Mode of inheritance Details
21 panels
Green ADAR in COVID-19 research


Level 2: Viral research
Version 1.147

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
  • Aicardi-Goutieres syndrome 6, OMIM:615010
  • Fever Syndromes and Related Diseases
  • Type 1 interferonopathies
  • Autoinflammatory Disorders
Green ADAR in Early onset dystonia

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.152

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Aicardi-Goutieres syndrome 6, OMIM:615010
  • Dyschromatosis symmetrica hereditaria, OMIM:127400
Green ADAR in White matter disorders and cerebral calcification - childhood onset


Level 2: Neurology
Version 8.7
Latest signed off version: v8.6 (12 Aug 2026)

Component of the following Super Panels:

  • Leukodystrophy, childhood onset
  • Paediatric disorders
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Aicardi-Goutieres syndrome 6, OMIM:615010
    • Dyschromatosis symmetrica hereditaria, OMIM:127400
    Green ADAR in Pigmentary skin disorders


    Level 2: Dermatology
    Version 5.13
    Latest signed off version: v5.12 (12 Aug 2026)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Dyschromatosis symmetrica hereditaria, OMIM:127400
    • Aicardi-Goutieres syndrome 6, OMIM:615010
    Red ADAR in Leukodystrophy, adult onset


    Level 2: Neurology
    Version 7.9
    Latest signed off version: v7.8 (12 Aug 2026)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • NHS GMS
    • Yorkshire and North East GLH
    Phenotypes
    • Aicardi-Goutieres syndrome 6, OMIM:615010
    Green ADAR in Primary immunodeficiency or monogenic inflammatory bowel disease


    Level 2: Immunology
    Version 9.105
    Latest signed off version: v9.91 (12 Aug 2026)

    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 6, OMIM:615010
    • Fever Syndromes and Related Diseases
    • Type 1 interferonopathies
    • Autoinflammatory Disorders
    Green ADAR in Structural basal ganglia disorders

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.40

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Aicardi-Goutieres syndrome 6, OMIM:615010
    Green ADAR in Intracerebral calcification disorders

    Level 3: Parenchymal brain disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.37

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Eligibility statement prior genetic testing
    • UKGTN
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Expert list
    Phenotypes
    • Aicardi-Goutieres syndrome 6, OMIM:615010
    • Dyschromatosis symmetrica hereditaria, OMIM:127400
    Green ADAR 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 6, OMIM:615010
    • General Leukodystrophy & Mitochondrial Leukoencephalopathy
    Green ADAR in Hereditary spastic paraplegia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.316

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Aicardi-Goutieres syndrome 6, OMIM:615010
    Green ADAR in Hereditary spastic paraplegia, childhood onset


    Level 2: Neurology
    Version 9.11
    Latest signed off version: v9.7 (12 Aug 2026)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Yorkshire and North East GLH
    • NHS GMS
    • London North GLH
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Aicardi-Goutieres syndrome 6, OMIM:615010
    Green ADAR in Hereditary spastic paraplegia, adult onset


    Level 2: Neurology
    Version 6.14
    Latest signed off version: v6.13 (12 Aug 2026)

    Component of the following Super Panels:

  • Adult-onset neurological disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Yorkshire and North East GLH
    • Expert Review Green
    • NHS GMS
    • London North GLH
    Phenotypes
    • Aicardi-Goutieres syndrome 6, OMIM:615010
    Red ADAR in Neurodegenerative disorders, adult onset


    Level 2: Neurology
    Version 9.11
    Latest signed off version: v9.4 (12 Aug 2026)

    Component of the following Super Panels:

  • Adult-onset neurological disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Wessex and West Midlands GLH
    • Yorkshire and North East GLH
    • NHS GMS
    • London North GLH
    Phenotypes
    • Aicardi-Goutieres syndrome 6, OMIM:615010
    Green ADAR in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.645

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Aicardi-Goutieres syndrome 6, OMIM:615010
    • Dyschromatosis symmetrica hereditaria, OMIM:127400
    Green ADAR in Likely inborn error of metabolism


    Level 2: Metabolic
    Version 9.30
    Latest signed off version: v9.29 (12 Aug 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 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Aicardi-Goutieres syndrome 6, OMIM:615010
    • Dyschromatosis symmetrica hereditaria, OMIM:127400
    Green ADAR in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 8.5
    Latest signed off version: v8.0 (12 Aug 2026)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • Aicardi-Goutieres syndrome 6, OMIM:615010
    • Dyschromatosis symmetrica hereditaria, OMIM:127400
    Green ADAR in DDG2P


    Version 8.1
    Latest signed off version: v8.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    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 Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 9.76
    Latest signed off version: v9.56 (12 Aug 2026)

    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 6, OMIM:615010
    Green ADAR in Intellectual disability


    Level 2: Developmental disorders
    Version 11.28
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Aicardi-Goutieres syndrome 6, OMIM:615010
    • Dyschromatosis symmetrica hereditaria, OMIM:127400
    Red ADAR in Dystonia, chorea or related movement disorder, adult onset


    Level 2: Neurology
    Version 6.9
    Latest signed off version: v6.7 (12 Aug 2026)

    Component of the following Super Panels:

  • Adult-onset neurological disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • NHS GMS
    • London North GLH
    Phenotypes
    • dystonia
    • Aicardi-Goutieres syndrome 6, 615010
    Green ADAR in Dystonia, chorea or related movement disorder, childhood onset


    Level 2: Neurology
    Version 8.14
    Latest signed off version: v8.13 (12 Aug 2026)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • PanelApp
    • Expert Review Green
    • London North GLH
    Phenotypes
    • Aicardi-Goutieres syndrome 6, OMIM:615010
    • Dyschromatosis symmetrica hereditaria, OMIM:127400