Hereditary neuropathy
Gene: GJC2EnsemblGeneIds (GRCh38): ENSG00000198835
EnsemblGeneIds (GRCh37): ENSG00000198835
OMIM: 608803, Gene2Phenotype
GJC2 is in 17 panels
2 reviews
Louise Daugherty (Genomics England Curator)
The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.Created: 7 Dec 2019, 6:08 p.m. | Last Modified: 7 Dec 2019, 6:08 p.m.
Panel Version: 1.352
Review and rating uploaded from file (Curation_Template_GMS_Neuro_AR_20190521.xlsx) submitted by Alex Rossor (UCL Institute of Neurology) on behalf of London North GLH for GMS Neurology specialist test group.Created: 11 Jun 2019, 1:40 p.m.
Alexander Rossor (UCL Institute of Neurology)
neuropathy in 2 out of 10Created: 6 Jun 2019, 10:52 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Infantile-onset Pelizaeus-Merzbacher disease-like phenotype slowly evolving into a form of complicated hereditary spastic paraplegia with mental retardation, dysarthria, optic atrophy andperipheral neuropathyin adulthood. Leukodystrophy
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- London North GLH
- Phenotypes
-
- Spastic paraplegia 44, autosomal recessive, 613206
- Leukodystrophy, hypomyelinating, 2, 608804
- Infantile-onset Pelizaeus-Merzbacher disease-like phenotype slowly evolving into a form of complicated hereditary spastic paraplegia with mental retardation, dysarthria, optic atrophy andperipheral neuropathyin adulthood. Leukodystrophy
- OMIM
- 608803
- Clinvar variants
- Variants in GJC2
- Penetrance
- None
- Panels with this gene
-
- Hereditary neuropathy
- DDG2P
- Adult onset leukodystrophy
- Inherited white matter disorders
- Adult onset neurodegenerative disorder
- Hereditary ataxia with onset in adulthood
- Hereditary neuropathy or pain disorder
- Ataxia and cerebellar anomalies - narrow panel
- Hereditary spastic paraplegia
- Hereditary ataxia
- Adult onset hereditary spastic paraplegia
- Fetal anomalies
- White matter disorders and cerebral calcification - narrow panel
- Primary lymphoedema
- Childhood onset hereditary spastic paraplegia
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source Expert Review Green was added to GJC2. Rating Changed from Red List (low evidence) to Green List (high evidence)
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: GJC2 were changed from to Spastic paraplegia 44, autosomal recessive, 613206; Leukodystrophy, hypomyelinating, 2, 608804; Infantile-onset Pelizaeus-Merzbacher disease-like phenotype slowly evolving into a form of complicated hereditary spastic paraplegia with mental retardation, dysarthria, optic atrophy andperipheral neuropathyin adulthood. Leukodystrophy
Set mode of inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene: GJC2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to GJC2.
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: GJC2 was added gene: GJC2 was added to Hereditary neuropathy. Sources: London North GLH Mode of inheritance for gene: GJC2 was set to