Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 3.3
Latest signed off version: v3.0
(22 Mar 2023)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- NHS GMS
- Expert Review Amber
- Literature
Phenotypes
- trichothiodystrophy, MONDO:0018053
Tags
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Version 19.202
Latest signed off version: v19.1
(22 Mar 2023)
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review
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Unknown
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Sources
Tags
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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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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- NHS GMS
- Expert list
Phenotypes
- Developmental and epileptic encephalopathy 29, OMIM:616339
- Developmental and epileptic encephalopathy, 29, MONDO:0014593
Tags
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Version 4.64
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, imprinted status unknown
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Sources
Phenotypes
- Charcot-Marie-Tooth disease, axonal, type 2N, OMIM:613287
- Charcot-Marie-Tooth disease axonal type 2N, MONDO:0013212
Tags
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Version 3.24
Latest signed off version: v3.0
(22 Mar 2023)
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- Expert Review Green
- NHS GMS
- Yorkshire and North East GLH
Phenotypes
- Charcot-Marie-Tooth disease, axonal, type 2N, 613287
Tags
- new-gene-name
- to_be_confirmed_NHSE
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Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.332
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
Phenotypes
- Charcot-Marie-Tooth disease, axonal, type 2N, OMIM:613287
- Charcot-Marie-Tooth disease axonal type 2N, MONDO:0013212
Tags
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Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 4.88
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Expert list
Phenotypes
- Developmental and epileptic encephalopathy 29, OMIM:616339
- Developmental and epileptic encephalopathy, 29, MONDO:0014593
Tags
|
Version 4.47
Latest signed off version: v4.34
(31 Jul 2023)
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review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Yorkshire and North East GLH
- NHS GMS
- South West GLH
- Expert Review Red
Phenotypes
- Charcot-Marie-Tooth disease, axonal, type 2N, OMIM:613287
- Charcot-Marie-Tooth disease axonal type 2N, MONDO:0013212
Tags
|
Version 3.169
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Amber
- PAGE DD-Gene2Phenotype
Phenotypes
- Developmental and epileptic encephalopathy 29, OMIM:616339
- Developmental and epileptic encephalopathy, 29, MONDO:0014593
Tags
|
Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 3.6
Latest signed off version: v3.3
(22 Mar 2023)
Component of the following Super Panels:
Hypotonic infant
Other rare neuromuscular disorders
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review
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Not set
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Sources
Tags
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Version 3.90
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- DD-Gene2Phenotype
Phenotypes
- EARLY-ONSET EPILEPTIC ENCEPHALOPATHY WITH PERSISTENT MYELINATION DEFECT
Tags
|
Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.477
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- South West GLH
- NHS GMS
- London North GLH
- Expert Review Green
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Expert list
Phenotypes
- Charcot-Marie-Tooth disease, axonal, type 2N, OMIM:613287
- Charcot-Marie-Tooth disease axonal type 2N, MONDO:0013212
Tags
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Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 4.196
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
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Wessex and West Midlands GLH
- NHS GMS
- Victorian Clinical Genetics Services
- Expert Review Green
- Literature
Phenotypes
- Developmental and epileptic encephalopathy 29, OMIM:616339
- Developmental and epileptic encephalopathy, 29, MONDO:0014593
Tags
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.553
Latest signed off version: v5.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Developmental and epileptic encephalopathy 29, OMIM:616339
- Developmental and epileptic encephalopathy, 29, MONDO:0014593
Tags
|
Version 4.34
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Amber
- London North GLH
- NHS GMS
- Wessex and West Midlands GLH
- Hereditary ataxia v1.148
Phenotypes
- Charcot-Marie-Tooth disease, axonal, type 2N, OMIM:613287
- Charcot-Marie-Tooth disease axonal type 2N, MONDO:0013212
Tags
|
Version 3.94
Latest signed off version: v3.24
(15 May 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Radboud University Medical Center, Nijmegen
- South West GLH
- Expert Review Green
- UKGTN
- Emory Genetics Laboratory
- Expert list
- London North GLH
- Illumina TruGenome Clinical Sequencing Services
- NHS GMS
- South West GLH
- NHS GMS
- London North GLH
Phenotypes
- Charcot-Marie-Tooth disease, axonal, type 2N, OMIM:613287
- Charcot-Marie-Tooth disease axonal type 2N, MONDO:0013212
Tags
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Version 1.184
|
review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Charcot-Marie-Tooth disease, axonal, type 2N, OMIM:613287
- Charcot-Marie-Tooth disease axonal type 2N, MONDO:0013212
- Developmental and epileptic encephalopathy 29, OMIM:616339
- Developmental and epileptic encephalopathy, 29, MONDO:0014593
Tags
|