ADAR

Panel	Reviews	Mode of inheritance	Details
Filter panels 20 panels
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 1.11 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 1.1 Signed off v.1.0 on 11 Dec 2019	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 2.1 Signed off v.2.0 on 12 Nov 2019	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 1.71	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 1.213	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 2.7 Signed off v.2.6 on 18 Oct 2019	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 1.2 Signed off v.1.1 on 18 Oct 2019	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 2.1 Signed off v.2.0 on 11 Dec 2019	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 1.413	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 2.4 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 1.3 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 2.3 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 2.3 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 3.3 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 1.1 Signed off v.1.0 on 29 Nov 2019	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 1.1 Signed off v.1.0 on 12 Dec 2019	review	BIALLELIC, autosomal or pseudoautosomal	Sources PanelApp Expert Review Green London North GLH Phenotypes Aicardi-Goutieres syndrome 6, 615010 dystonia

ADAR

20 panels

Green ADAR in Early onset dystonia

Sources

Phenotypes

Green ADAR in White matter disorders and cerebral calcification - narrow panel

Sources

Phenotypes

Green ADAR in Pigmentary skin disorders

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Phenotypes

Green ADAR in White matter disorders - adult onset

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Phenotypes

Green ADAR in Primary immunodeficiency

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Phenotypes

Green ADAR in Structural basal ganglia disorders

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Phenotypes

Green ADAR in Intracerebral calcification disorders

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Phenotypes

Green ADAR in Inherited white matter disorders

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Phenotypes

Green ADAR in Hereditary spastic paraplegia

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Phenotypes

Green ADAR in Hereditary spastic paraplegia - childhood onset

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Phenotypes

Green ADAR in Hereditary spastic paraplegia - adult onset

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Phenotypes

Red ADAR in Neurodegenerative disorders - adult onset

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Phenotypes

Green ADAR in Undiagnosed metabolic disorders

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Phenotypes

Green ADAR in Inborn errors of metabolism

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Phenotypes

Green ADAR in Fetal anomalies

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Phenotypes

Green ADAR in DDG2P

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Phenotypes

Green ADAR in Genetic epilepsy syndromes

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Phenotypes

Green ADAR in Intellectual disability

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Phenotypes

Red ADAR in Adult onset movement disorder

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Phenotypes

Green ADAR in Childhood onset dystonia or chorea or related movement disorder

Sources

Phenotypes