Hereditary neuropathy NOT PMP22 copy numberGene: KCNA2
Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - ataxia with neuropathy / Broader phenotype - epilepsy & ataxia, neuropathy only in one family - is neuropathy a consistent feature?
Created: 6 Dec 2019, 8:57 p.m. | Last Modified: 6 Dec 2019, 8:57 p.m.
Panel Version: 0.76
Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) 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, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Created: 6 Dec 2019, 8:56 p.m. | Last Modified: 6 Dec 2019, 8:56 p.m.
Panel Version: 0.76
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.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Childhood onset spasticity, intellectual disability, ataxia, seizures, sensory and motor SNCV in one family
Gene: kcna2 has been classified as Amber List (Moderate Evidence).
gene: KCNA2 was added gene: KCNA2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: KCNA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KCNA2 were set to 27543892 Phenotypes for gene: KCNA2 were set to Epileptic encephalopathy, early infantile, 32, 616366; Childhood onset spasticity, intellectual disability, ataxia, seizures, sensory and motor SNCV in one family