Hereditary neuropathy or pain disorder
Gene: GBA2
Numerous GBA2 variants have been associated with OMIM:614409. This gene should be green on this panel, as the panel scope now includes complex phenotypes.Created: 13 May 2024, 8:57 a.m. | Last Modified: 13 May 2024, 8:57 a.m.
Panel Version: 4.11
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 46, autosomal recessive, OMIM:614409
Publications
Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - HSP with neuropathy / Broader phenotype - HSP with neuropathyCreated: 6 Dec 2019, 8:33 p.m. | Last Modified: 6 Dec 2019, 8:33 p.m.
Panel Version: 0.69
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, 8:31 p.m. | Last Modified: 6 Dec 2019, 8:31 p.m.
Panel Version: 0.69
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.
should be included in R78 panel as panel now includes complex phenotypes e.g. ACOX1, HEXA, HEXB, MCM3AP, MORC2, PIGB, POLR3B, SLC25A46Created: 17 Mar 2024, 9:09 p.m. | Last Modified: 17 Mar 2024, 9:09 p.m.
Panel Version: 3.83
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SPG46, Spastic paraplegia, cognitive decline, thin corpus callosum, ataxia, cataracts, bulbar dysfunction, axonal sensory-motor neuropathy
Publications
Tag Q2_24_promote_green tag was added to gene: GBA2. Tag Q2_24_NHS_review tag was added to gene: GBA2.
Gene: gba2 has been classified as Amber List (Moderate Evidence).
gene: GBA2 was added gene: GBA2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: GBA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GBA2 were set to 23332916 Phenotypes for gene: GBA2 were set to SPG46, Spastic paraplegia, cognitive decline, thin corpus callosum, ataxia, cataracts, bulbar dysfunction, axonal sensory-motor neuropathy; Spastic paraplegia 46, autosomal recessive, 614409