PanelApp
  1. Genes and Genomic Entities
  2. ADAR

ADAR

adenosine deaminase, RNA specific
OMIM: 146920, Gene2Phenotype

24 panels

Panel Reviews Mode of inheritance Details
24 panels

Green ADAR in Early-onset Parkinson disease


Level 2: Neurology and neurodevelopmental disorders
Version 2.43

Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions
  • Tremors_Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Aicardi-Goutieres syndrome 6
    • neuroinflammatory disorder with cerebral calcification
    • progressive loss of cognition
    • spasticity
    • dystonia
    • parkinsonism
    • OMIM 615010

    Green ADAR in Vasculitis


    Level 2: Immunological disorders
    Version 0.93

    		0 reviews Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green ADAR in Brain Calcification


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.99

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Aicardi-Goutieres syndrome 6, MIM#615010

    Green ADAR in Cerebral Palsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.400

    		2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Aicardi-Goutieres syndrome 6, MIM# 615010

    Red ADAR in Chromosome Breakage Disorders


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.24

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    Phenotypes
    • Dyschromatosis symmetrica hereditaria, MIM# 127400

    Green ADAR in Mendeliome


    Version 1.3499

    		1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Aicardi-Goutieres syndrome 6, MIM# 615010
    • Dyschromatosis symmetrica hereditaria, MIM# 127400

    Red ADAR in Photosensitivity Syndromes


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.10

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    Phenotypes
    • Dyschromatosis symmetrica hereditaria , MIM#127400

    Green ADAR in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.263

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Aicardi-Goutieres syndrome 6, MIM# 615010
    • Dyschromatosis symmetrica hereditaria, MIM# 127400

    Green ADAR in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.590

    		0 reviews Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green ADAR in Disorders of immune dysregulation


    Level 2: Immunological disorders
    Version 1.33

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  1 review Unknown
    Sources
    • Expert Review Green
    • Expert list
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green ADAR in Autoinflammatory Disorders


    Level 2: Immunological disorders
    Version 2.28

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel

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

    Green ADAR in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.398

    		1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Aicardi-Goutieres syndrome 6, MIM# 615010

    Green ADAR in Dystonia - complex


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.288

    Component of the following Super Panels:

  • Dystonia_Superpanel
  • Progressive Neurological Conditions
  • Tremors_Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • dystonia
    • Aicardi-Goutieres syndrome 6, 615010

    Green ADAR in Leukodystrophy - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.333

    Component of the following Super Panels:

  • Leukodystrophy_Superpanel
  • Progressive Neurological Conditions

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

    Green ADAR in Leukodystrophy - adult onset


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.151

    Component of the following Super Panels:

  • Leukodystrophy_Superpanel
  • Progressive Neurological Conditions

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

    Green ADAR in Hereditary Spastic Paraplegia - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.102

    Component of the following Super Panels:

  • Hereditary Spastic Paraplegia Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Aicardi-Goutieres syndrome 6, 615010 autosomal recessive

    Green ADAR in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.110

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Aicardi-Goutieres syndrome 6, 615010 (3)

    Green ADAR in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Dyschromatosis symmetrica hereditaria
    • Aicardi-Goutieres syndrome

    Red ADAR in Fetal anomalies


    Version 1.465

    		1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Genomics England PanelApp
    Phenotypes
    • Aicardi-Goutieres syndrome 6, MIM# 615010

    Green ADAR in Prepair 1000+


    Level 2: Screening
    Version 2.14

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Aicardi-Goutieres syndrome 6, 615010 (3)

    Amber ADAR in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • BabySeq Category A gene
    Phenotypes
    • Aicardi-Goutieres syndrome 6, MIM# 615010
    Tags
    • for review
    • treatable
    • clinical trial

    Green ADAR in Prepair 500+


    Level 2: Screening
    Version 2.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Aicardi-Goutieres syndrome 6, MIM#615010

    Green ADAR in Nucleotide metabolism disorders


    Level 2: Metabolic disorders
    Version 0.8

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Disorders of ectonucleotide and nucleic acid metabolism
    • Aicardi-Goutieres syndrome MONDO:0018866

    Green ADAR in Hereditary Pigmentary Disorders


    Level 2: Dermatological disorders
    Version 1.3

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    • Victorian Clinical Genetics Services
    Phenotypes
    • ADAR-related type 1 interferonopathy MONDO:0700261