|
Level 3: Multi-system inflammatory/autoimmune disorders
Level 2: Rheumatological disorders
Version 1.3
|
review
|
Not set
|
Sources
Phenotypes
- Aicardi Goutieres Syndrome
|
|
Level 2: Viral research
Version 1.142
|
review
|
BOTH monoallelic and 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
- Expert Review Green
- IUIS Classification February 2018
- Victorian Clinical Genetics Services
- ESID Registry 20171117
- GRID V2.0
Phenotypes
- Aicardi-Goutieres syndrome 1, dominant and recessive
- Autoinflammatory Disorders
- Type 1 interferonopathies
- Classical AGS, SLE, FCL
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|
Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.147
|
review
|
Not set
|
Sources
- Emory Genetics Laboratory
Phenotypes
|
|
Version 4.3
Latest signed off version: v4.0
(1 May 2024)
Component of the following Super Panels:
Childhood onset leukodystrophy
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Aicardi-Goutieres syndrome 1, dominant and recessive 225750
- General Leukodystrophy & Mitochondrial Leukoencephalopathy
- Aicardi-Gouti res syndrome, isolated chilblains, lupus-like disease, retinal vasculopathy with cerebral leukodystrophy
- Aicardi-Goutieres syndrome 1, dominant and recessive
- Vasculopathy, retinal, with cerebral leukodystrophy 192315
|
|
Level 3: Arteriopathies
Level 2: Cardiovascular disorders
Version 1.17
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Expert list
- Literature
Phenotypes
- retinal vasculopathy with cerebral leukodystrophy
- cerebroretinal vasculopathy
- hereditary endotheliopathy, retinopathy, nephropathy and stroke
- stroke, hereditary vascular retinopathy
- retinopathy
- nephropathy
- Aicardi-Goutieres syndrome 1, dominant and recessive 225750 AR, AD
- Vasculopathy, retinal, with cerebral leukodystrophy 192315 AD
|
|
Version 3.19
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
- Aicardi-Goutieres syndrome 1, dominant and recessive, OMIM:225750
- Chilblain lupus, OMIM:610448
|
|
Version 4.3
Latest signed off version: v4.0
(1 May 2024)
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- NHS GMS
- Yorkshire and North East GLH
Phenotypes
- Vasculopathy, retinal, with cerebral leukodystrophy, 192315
- Aicardi-Goutieres syndrome 1, dominant and recessive, 225750
|
|
Version 5.3
Latest signed off version: v5.0
(1 May 2024)
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Other
- NHS GMS
- North West GLH
- London North GLH
- IUIS Classification February 2018
- Victorian Clinical Genetics Services
- ESID Registry 20171117
- GRID V2.0
Phenotypes
- Aicardi-Goutieres syndrome 1, dominant and recessive, 225750
- Type 1 interferonopathies
- Classical AGS, SLE, FCL
- Autoinflammatory Disorders
|
|
Level 3: Parenchymal brain disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.35
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Other
- Eligibility statement prior genetic testing
- UKGTN
Phenotypes
- Aicardi-Goutieres syndrome 1, dominant and recessive
- Aicardi-Goutières syndrome, isolated chilblains, lupus-like disease, retinal vasculopathy with cerebral leukodystrophy
|
|
Level 3: White matter disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.180
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Expert list
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
Phenotypes
- Aicardi-Goutieres syndrome 1, dominant and recessive 225750
- Vasculopathy, retinal, with cerebral leukodystrophy 192315
- General Leukodystrophy & Mitochondrial Leukoencephalopathy
|
|
Version 5.3
Latest signed off version: v5.0
(1 May 2024)
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- NHS GMS
Phenotypes
- Aicardi-Goutieres syndrome 1, dominant and recessive, OMIM:225750
- Vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations, OMIM:192315
|
|
Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.617
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Literature
Phenotypes
- (Disorders of nucleotide metabolism, Aicardi-Gouti res Syndrome) AGS1
- Familial cerebral small vessel disease
- Inherited white matter disorders
- Intellectual disability
- Intracerebral calcification disorders
|
|
Version 5.3
Latest signed off version: v5.0
(1 May 2024)
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
- Expert Review Green
- London North GLH
- NHS GMS
Phenotypes
- Intellectual disability
- Familial cerebral small vessel disease
- Intracerebral calcification disorders
- (Disorders of nucleotide metabolism, Aicardi-Gouti res Syndrome) AGS1
- Inherited white matter disorders
|
|
Version 4.1
Latest signed off version: v4.0
(1 May 2024)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- PAGE DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE
|
|
Version 4.3
Latest signed off version: v4.0
(1 May 2024)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE 225750
|
|
Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 5.10
Latest signed off version: v5.0
(1 May 2024)
Component of the following Super Panels:
Paediatric disorders
Unexplained death in infancy and sudden unexplained death in childhood
|
review
|
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
|
Sources
- Wessex and West Midlands GLH
- NHS GMS
- Expert Review Green
- Victorian Clinical Genetics Services
Phenotypes
- Aicardi-Goutieres syndrome 1, dominant and recessive, 225750
- seizures
- Vasculopathy, retinal, with cerebral leukodystrophy, 192315
- {Systemic lupus erythematosus, susceptibility to}, 152700
|
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.13
Latest signed off version: v6.0
(1 May 2024)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Radboud University Medical Center, Nijmegen
Phenotypes
- Aicardi-Goutieres syndrome 1, dominant and recessive, 225750Chilblain lupus, 610448Vasculopathy, retinal, with cerebral leukodystrophy, 192315{Systemic lupus erythematosus, susceptibility to}, 152700
- AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE
|
|
Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 5.4
Latest signed off version: v5.0
(1 May 2024)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- NHS GMS
- RetNet
Phenotypes
- Vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations, OMIM:192315
|
|
Version 3.19
Latest signed off version: v3.12
(31 Jul 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- South West GLH
- Expert Review Red
Phenotypes
- Vasculopathy, retinal, with cerebral leukodystrophy, 192315
- Aicardi-Goutieres syndrome 1, dominant and recessive, 225750
- Dystonia
|
|
Version 4.3
Latest signed off version: v4.0
(1 May 2024)
|
review
|
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
|
Sources
- South West GLH
- Expert Review Green
- London North GLH
Phenotypes
- Vasculopathy, retinal, with cerebral leukodystrophy, 192315
- Aicardi-Goutieres syndrome 1, dominant and recessive, 225750
|
|
Version 1.184
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Aicardi-Goutieres syndrome 1, dominant and recessive, 225750
- Chilblain lupus, 610448
- Vasculopathy, retinal, with cerebral leukodystrophy, 192315
|