ADAR

adenosine deaminase, RNA specific
OMIM: 146920, Gene2Phenotype

22 panels

Panel Reviews Mode of inheritance Details
22 panels

Green ADAR in COVID-19 research


Level 2: Viral research
Version 1.80

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
  • 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 1.89

review BIALLELIC, autosomal or pseudoautosomal
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 1.206
Latest signed off version: v1.12 (2 Mar 2020)

Component of the following Super Panels:

  • White matter disorders - childhood onset
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    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 1.16
    Latest signed off version: v1.4 (15 Oct 2020)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    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 1.31
    Latest signed off version: v1.25 (5 Aug 2021)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Yorkshire and North East GLH
    Phenotypes
    • Aicardi-Goutieres syndrome 6, 615010

    Green ADAR in Primary immunodeficiency


    Version 2.477
    Latest signed off version: v2.1 (24 Feb 2020)

    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
    • 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 1.19

    review BIALLELIC, autosomal or pseudoautosomal
    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 1.28

    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
    • 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 1.141

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    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 1.259

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Aicardi-Goutieres syndrome 6, 615010

    Green ADAR in Hereditary spastic paraplegia - childhood onset


    Version 2.84
    Latest signed off version: v2.18 (8 Oct 2020)

    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, 615010

    Green ADAR in Hereditary spastic paraplegia - adult onset


    Version 1.73
    Latest signed off version: v1.27 (5 Aug 2021)

    review BIALLELIC, autosomal or pseudoautosomal
    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 2.200
    Latest signed off version: v2.178 (5 Aug 2021)

    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, 615010
    • dystonia

    Green ADAR in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.486

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Aicardi-Goutieres syndrome 6 615010
    • Dyschromatosis symmetrica hereditaria 127400

    Green ADAR in Inborn errors of metabolism


    Version 2.187
    Latest signed off version: v2.3 (17 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Aicardi-Goutieres syndrome 6

    Green ADAR in Fetal anomalies


    Version 1.728
    Latest signed off version: v1.92 (21 Aug 2020)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    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 2.49
    Latest signed off version: v2.2 (13 Feb 2020)

    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 Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.448
    Latest signed off version: v2.2 (13 Feb 2020)

    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 615010

    Green ADAR in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1367
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    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 1.123
    Latest signed off version: v1.121 (5 Aug 2021)

    review BIALLELIC, autosomal or pseudoautosomal
    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 1.157
    Latest signed off version: v1.137 (5 Aug 2021)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PanelApp
    • Expert Review Green
    • London North GLH
    Phenotypes
    • Aicardi-Goutieres syndrome 6, 615010
    • dystonia

    Green ADAR in Severe Paediatric Disorders


    Version 1.84

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Aicardi-Goutieres syndrome 6, 615010
    • Dyschromatosis symmetrica hereditaria, 127400