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
- Expert Review Green
- Expert list
Phenotypes
- Axonal type CMT disease type 2Z, 616688
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Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 4.82
Latest signed off version: v4.0
(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
- Literature
Phenotypes
- Developmental delay
- Intellectual disability
- Growth retardation
- Microcephaly
- Craniofacial dysmorphism
- Charcot-Marie-Tooth disease, axonal, type 2Z, OMIM:616688
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Version 3.88
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
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Sources
- Expert Review Green
- DD-Gene2Phenotype
Phenotypes
- MORC2 - axonal neuropathy
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Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.477
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- South West GLH
- NHS GMS
- London North GLH
- Expert Review Green
- Literature
Phenotypes
- Charcot-Marie-Tooth disease, axonal, type 2Z 616688
- Charcot-Marie-Tooth disease, axonal, type 2Z, 616688
- axonal Charcot-Marie-Tooth disease
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Level 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders
Version 4.38
Latest signed off version: v4.0
(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
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Sources
- Expert Review Amber
- Literature
Phenotypes
- Sensorineural hearing loss
- Developmental delay
- Intellectual disability
- Growth retardation
- Microcephaly
- Craniofacial dysmorphism
- Charcot-Marie-Tooth disease, axonal, type 2Z, OMIM:616688
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.544
Latest signed off version: v5.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- Expert Review Green
- Literature
Phenotypes
- Developmental delay
- Intellectual disability
- Growth retardation
- Microcephaly
- Craniofacial dysmorphism
- Charcot-Marie-Tooth disease, axonal, type 2Z, OMIM:616688
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Version 4.34
Latest signed off version: v4.0
(22 Mar 2023)
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review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- Expert Review Amber
- London North GLH
- NHS GMS
- Wessex and West Midlands GLH
Phenotypes
- Axonal type CMT disease type 2Z, 616688
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Version 3.94
Latest signed off version: v3.24
(15 May 2023)
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- South West GLH
- Literature
- Expert Review Green
- London North GLH
- NHS GMS
- South West GLH
- NHS GMS
- London North GLH
Phenotypes
- Charcot-Marie-Tooth disease, axonal, type 2Z
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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
- Charcot-Marie-Tooth disease, axonal, type 2Z, 616688
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