Version 3.35
Latest signed off version: v3.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
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review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
Phenotypes
- Epileptic encephalopathy, early infantile, 11
- Seizures, benign familial infantile, 3
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Version 4.59
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Hereditary ataxia and cerebellar anomalies - childhood onset
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review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- NHS GMS
- Expert Review Green
- Expert list
Phenotypes
- Episodic ataxia, type 9, MIM# 618924, MONDO:0030064
- Developmental and epileptic encephalopathy 11, MIM# 613721, MONDO:0013388
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Version 0.36
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review
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Not set
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Sources
- Expert Review Green
- SFARI
Phenotypes
- EP, ASD, DD/NDD, EPS, ADHD, ID
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Level 3: Parenchymal brain disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.35
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review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
Phenotypes
- Epileptic encephalopathy, early infantile, 11
- Seizures, benign familial infantile, 3
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Version 3.155
Latest signed off version: v3.0
(22 Mar 2023)
|
review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- Expert Review Green
- PAGE DD-Gene2Phenotype
Phenotypes
- NONSPECIFIC SEVERE ID
- INFANTILE EPILEPTIC ENCEPHALOPATHY
- BENIGN FAMILIAL NEONATAL INFANTILE SEIZURES
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Version 3.87
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- NONSPECIFIC SEVERE ID
- BENIGN FAMILIAL NEONATAL INFANTILE SEIZURES 248968
- INFANTILE EPILEPTIC ENCEPHALOPATHY
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Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 4.193
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
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review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- Wessex and West Midlands GLH
- NHS GMS
- NIHRBR-RD Consortium SPEED_v3.0_20170404
- Victorian Clinical Genetics Services
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- UKGTN
- Expert
- Expert Review Green
Phenotypes
- Epileptic encephalopathy, early infantile, 11 613721
- Seizures, benign familial infantile, 3 607745
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.531
Latest signed off version: v5.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
|
review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Victorian Clinical Genetics Services
- Expert Review Green
- Radboud University Medical Center, Nijmegen
Phenotypes
- Seizures, benign familial infantile, 3, 607745Epileptic encephalopathy, early infantile, 11, 613721
- NONSPECIFIC SEVERE ID
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Version 1.184
|
review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Epileptic encephalopathy, early infantile, 11, 613721
- Seizures, benign familial infantile, 3, 607745
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