Version 2.39
Signed off v.2.23
on 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
- 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 2.89
Signed off v.2.2
on 2 Mar 2020
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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
- Developmental delay
- Intellectual disability
- Growth retardation
- Microcephaly
- Craniofacial dysmorphism
- Charcot-Marie-Tooth disease, axonal, type 2Z, OMIM:616688
Tags
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Version 2.18
Signed off v.2.2
on 13 Feb 2020
Component of the following Super Panels:
Paediatric disorders
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review
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Not set
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Sources
- DD-Gene2Phenotype
- Expert Review Red
Phenotypes
- MORC2 - axonal neuropathy
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Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.383
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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 2.146
Signed off v.2.5
on 13 Feb 2020
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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
Tags
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.740
Signed off v.3.2
on 13 Feb 2020
Component of the following Super Panels:
Hypotonic infant
Paediatric disorders
White matter disorders - 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 Amber
- Literature
Phenotypes
- Developmental delay
- Intellectual disability
- Growth retardation
- Microcephaly
- Craniofacial dysmorphism
- Charcot-Marie-Tooth disease, axonal, type 2Z, OMIM:616688
Tags
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Version 2.20
Signed off v.2.13
on 6 Oct 2020
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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 1.21
Signed off v.1.2
on 27 Feb 2020
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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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 1.43
|
review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Charcot-Marie-Tooth disease, axonal, type 2Z, 616688
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