Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.25
Latest signed off version: v2.7
(15 Oct 2020)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Amber
- Literature
Phenotypes
- trichothiodystrophy, MONDO:0018053
Tags
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Version 5.352
Latest signed off version: v5.43
(4 Mar 2020)
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review
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Unknown
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Sources
Tags
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Version 1.240
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
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Amber
- Expert list
Phenotypes
- Developmental and epileptic encephalopathy 29, OMIM:616339
- Developmental and epileptic encephalopathy, 29, MONDO:0014593
Tags
- new-gene-name
- Q2_21_rating
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Version 2.300
Latest signed off version: v2.23
(8 Oct 2020)
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 1.43
Latest signed off version: v1.25
(5 Aug 2021)
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- NHS GMS
- Yorkshire and North East GLH
Phenotypes
- Charcot-Marie-Tooth disease, axonal, type 2N, 613287
Tags
- new-gene-name
- Q4_21_expert_review
- to_be_confirmed_NHSE
|
Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.303
|
review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
Phenotypes
- Charcot-Marie-Tooth disease, axonal, type 2N, OMIM:613287
- Charcot-Marie-Tooth disease axonal type 2N, MONDO:0013212
Tags
|
Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.315
Latest signed off version: v2.2
(2 Mar 2020)
|
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 2.275
Latest signed off version: v2.178
(5 Aug 2021)
|
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 1.900
Latest signed off version: v1.92
(21 Aug 2020)
|
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 1.79
Latest signed off version: v1.30
(4 Mar 2020)
Component of the following Super Panels:
Hypotonic infant
Neuromuscular disorders
|
review
|
Not set
|
Sources
Tags
|
Version 2.76
Latest signed off version: v2.2
(13 Feb 2020)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- DD-Gene2Phenotype
- Expert Review Amber
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 1.454
|
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
|
Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 2.563
Latest signed off version: v2.2
(13 Feb 2020)
|
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 3.1659
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
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Developmental and epileptic encephalopathy 29, OMIM:616339
- Developmental and epileptic encephalopathy, 29, MONDO:0014593
Tags
|
Version 2.158
Latest signed off version: v2.13
(6 Oct 2020)
|
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 1.103
Latest signed off version: v1.36
(5 Aug 2021)
|
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
|
Version 1.127
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
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
|