PanelApp
  1. Genes and Genomic Entities
  2. ADAR

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 1.140

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 1.147

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 - narrow panel


Version 3.23
Latest signed off version: v3.0 (22 Mar 2023)

Component of the following Super Panels:

  • Childhood onset leukodystrophy

    		•  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


    Version 3.5
    Latest signed off version: v3.0 (22 Mar 2023)

    		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 Adult onset leukodystrophy


    Version 3.23
    Latest signed off version: v3.0 (22 Mar 2023)

    		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


    Version 4.125
    Latest signed off version: v4.0 (22 Mar 2023)

    		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 1.39

    		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 1.35

    		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 1.175

    		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 1.308

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

    Green ADAR in Childhood onset hereditary spastic paraplegia


    Version 4.28
    Latest signed off version: v4.0 (22 Mar 2023)

    		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 Adult onset hereditary spastic paraplegia


    Version 3.21
    Latest signed off version: v3.14 (31 Jul 2023)

    		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 Adult onset neurodegenerative disorder


    Version 4.42
    Latest signed off version: v4.34 (31 Jul 2023)

    		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 1.607

    		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 - targeted testing not possible


    Version 4.77
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • 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


    Version 3.122
    Latest signed off version: v3.0 (22 Mar 2023)

    		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 3.79
    Latest signed off version: v3.1 (22 Mar 2023)

    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 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.133
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • 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 - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.345
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • 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 Adult onset dystonia, chorea or related movement disorder


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

    		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, chorea or related movement disorder


    Version 3.56
    Latest signed off version: v3.0 (22 Mar 2023)

    		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

    Green ADAR in Severe Paediatric Disorders


    Version 1.178

    		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