Level 2: Viral research
Version 1.130
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review
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BIALLELIC, autosomal or pseudoautosomal
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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
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Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.117
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review
|
BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Emory Genetics Laboratory
Phenotypes
- Aicardi-Goutieres syndrome 6, 615010
- dystonia
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Version 1.241
Latest signed off version: v1.12
(2 Mar 2020)
Component of the following Super Panels:
White matter disorders - childhood onset
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
Phenotypes
- Aicardi-Goutieres Syndrome
- General Leukodystrophy & Mitochondrial Leukoencephalopathy
- Aicardi-Goutieres syndrome
- Aicardi-Gouti res, isolated spasticity, bilateral striatal necrosis
- Aicardi-Goutieres syndrome 6
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Version 1.50
Latest signed off version: v1.4
(15 Oct 2020)
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review
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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)
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Version 1.43
Latest signed off version: v1.25
(5 Aug 2021)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- NHS GMS
- Yorkshire and North East GLH
Phenotypes
- Aicardi-Goutieres syndrome 6, 615010
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Version 2.573
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
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Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.32
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Literature
Phenotypes
- Aicardi-Goutieres syndrome 6 615010
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Level 3: Parenchymal brain disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.34
|
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
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Level 3: White matter disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.159
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Expert list
Phenotypes
- Aicardi-Goutieres Syndrome
- General Leukodystrophy & Mitochondrial Leukoencephalopathy
|
Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.295
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Expert Review
Phenotypes
- Aicardi-Goutieres syndrome 6, 615010
|
Version 2.145
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
|
Version 1.102
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
|
Version 2.275
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
|
Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.542
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Literature
Phenotypes
- Aicardi-Goutieres syndrome 6 615010
- Dyschromatosis symmetrica hereditaria 127400
|
Version 2.263
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
|
Version 1.904
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
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Version 2.78
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
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Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 2.572
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
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.1677
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
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Version 1.170
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
|
Version 1.246
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
|
Version 1.127
|
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
|