Level 3: Channelopathies
Level 2: Neurology and neurodevelopmental disorders
Version 1.46
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- Expert Review Green
- Expert list
Phenotypes
- Migraine, familial hemiplegic, 2, 602481
- Alternating hemiplegia of childhood 1, 104290
- Hypokalaemic periodic paralysis
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Level 3: Fetal disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.64
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Amber
- Expert list
Phenotypes
- hydrops fetalis
- microcephaly
- arthrogryposis
- extensive cortical malformations
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Level 3: Channelopathies
Level 2: Neurology and neurodevelopmental disorders
Version 1.80
|
review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- Expert Review Green
- UKGTN
Phenotypes
- familial hemiplegic migraine type 2, 602481
- familial basilar migraine 602481
- alternating hemiplegia of childhood 104290
Tags
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Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.147
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review
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Not set
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Sources
- Emory Genetics Laboratory
Phenotypes
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Level 3: Arteriopathies
Level 2: Cardiovascular disorders
Version 1.17
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review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- Expert list
- Expert Review Green
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Literature
Phenotypes
- Cerebral small vessel disease
- coma
- encephalopathy
- Migraine, familial basilar 602481
- Migraine, familial hemiplegic, 2 602481
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.25
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Cerebral malformation
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review
|
BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Expert list
Phenotypes
- hydrops fetalis
- microcephaly
- arthrogryposis
- extensive cortical malformations
|
Version 3.10
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- NHS GMS
- London North GLH
- Wessex and West Midlands GLH
Phenotypes
- Migraine, familial hemiplegic, 2, 602481
- Migraine, familial basilar, 602481
- alternating hemiplegia of childhood 104290
|
Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.22
Latest signed off version: v5.0
(22 Mar 2023)
|
review
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BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Literature
Phenotypes
- arthrogryposis, microcephaly, malformations of cortical development, dysmorphic features and severe respiratory insufficiency
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Version 3.5
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Red
- NHS GMS
- London North GLH
Phenotypes
- hypokalaemic periodic paralysis MONDO:0008223
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Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 4.66
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Expert list
Phenotypes
- hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations
|
Version 4.46
Latest signed off version: v4.34
(31 Jul 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Red
- Wessex and West Midlands GLH
- Yorkshire and North East GLH
- NHS GMS
- London North GLH
Phenotypes
- Dystonia
- alternating hemiplegia of childhood 104290
- familial basilar migraine 602481
- migraine
- familial hemiplegic migraine type 2, 602481
Tags
|
Version 3.146
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Expert list
Phenotypes
- hydrops fetalis
- microcephaly
- arthrogryposis
- extensive cortical malformations
|
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
- ATP1A2-related epileptic encephalopathy
- MIGRAINE, FAMILIAL HEMIPLEGIC, ATP1A2-related
- Autosomal recessive ATP1A2-related neuronal migration disorder with epilepsy
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Level 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders
Version 4.26
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
Not set
|
Sources
- Radboud University Medical Center, Nijmegen
Phenotypes
- Alternating hemiplegia of childhood, 104290Migraine, familial basilar, 602481Migraine, familial hemiplegic, 2, 602481
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Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 4.183
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
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- Wessex and West Midlands GLH
- NHS GMS
- Expert
Phenotypes
- Alternating hemiplegia of childhood 1, 104290
- Migraine, familial basilar, 602481
- Migraine, familial hemiplegic, 2, 602481
- benign familial infantile convulsions
- epilepsy and migraine
- occipitotemporal epilepsy
- infantile epileptic syndrome
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.506
Latest signed off version: v5.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- Victorian Clinical Genetics Services
- Radboud University Medical Center, Nijmegen
Phenotypes
- Migraine, familial hemiplegic, 2 602481
- Alternating hemiplegia of childhood 1, 104290
|
Version 4.30
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- London North GLH
- NHS GMS
- Wessex and West Midlands GLH
- Expert Review Green
- Brain channelopathy v1.46
Phenotypes
- Alternating hemiplegia of childhood 1, 104290
- Familial hemiplegic migraine 2, 602481
Tags
|
Version 3.18
Latest signed off version: v3.12
(31 Jul 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- NHS GMS
- London North GLH
- Expert Review Green
Phenotypes
- familial basilar migraine OMIM:602481
- familial hemiplegic migraine type 2 OMIM:602481
- migraine, familial hemiplegic, 2 MONDO:0011232
- alternating hemiplegia of childhood OMIM:104290
- alternating hemiplegia of childhood 1 MONDO:0007087
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Version 3.74
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- PanelApp
- Expert Review Green
- London North GLH
Phenotypes
- familial basilar migraine 602481
- familial hemiplegic migraine type 2, 602481
- alternating hemiplegia of childhood 104290
- Dystonia
- migraine
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Version 1.182
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Alternating hemiplegia of childhood 1, 104290
- Migraine, familial basilar, 602481
- Migraine, familial hemiplegic, 2, 602481
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