Hereditary neuropathy NOT PMP22 copy numberGene: AGXT
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, 1:38 p.m. | Last Modified: 6 Dec 2019, 1:38 p.m.
Panel Version: 0.24
Gene remains rated Amber: From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - minor feature / Gene well established to cause PH1 Primary Hyperoxaluria (green). 2 reports of neuropathy - enough cases?
Created: 5 Dec 2019, 10:52 a.m. | Last Modified: 6 Dec 2019, 1:39 p.m.
Panel Version: 0.24
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.
Gene well established to cause PH1 (green). 2 reports of neuropathy
Created: 6 Jun 2019, 10:52 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Renal failure and deposition of calcium oxalate crystals in tissues including nerve and muscle. Sensory and motor axonal neuropathy (some slowing)
Gene: agxt has been classified as Amber List (Moderate Evidence).
gene: AGXT was added gene: AGXT was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: AGXT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AGXT were set to 25363903; 4701948 Phenotypes for gene: AGXT were set to Hyperoxaluria, primary, type 1, 259900; Renal failure and deposition of calcium oxalate crystals in tissues including nerve and muscle. Sensory and motor axonal neuropathy (some slowing)