ADAR

adenosine deaminase, RNA specific
OMIM: 146920, Gene2Phenotype

23 panels

Panel Reviews Mode of inheritance Details
23 panels

Green ADAR in COVID-19 research


Level 2: Viral research
Version 1.58

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 1.81

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 1.14
Signed off v.1.12 on 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 1.3
    Signed off v.1.2 on 19 Feb 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 1.4
    Signed off v.1.2 on 27 Feb 2020

    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 2.175
    Signed off v.2.1 on 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 1.17

    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 1.18

    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 1.76

    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 1.215

    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 2.12
    Signed off v.2.8 on 2 Mar 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 1.7
    Signed off v.1.3 on 2 Mar 2020

    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 2.4
    Signed off v.2.2 on 2 Mar 2020

    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 1.416

    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 2.12
    Signed off v.2.3 on 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 1.73
    Signed off v.1.2 on 17 Feb 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 2.8
    Signed off v.2.2 on 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 2.102
    Signed off v.2.2 on 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 3.135
    Signed off v.3.2 on 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 1.5
    Signed off v.1.2 on 2 Mar 2020

    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 1.4
    Signed off v.1.2 on 25 Feb 2020

    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 1.6

    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

    Green ADAR in Immunological disorders_SuperPanel_PanelAppAustralia


    Level 2: Immunological disorders
    Version 0.3

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