Hereditary neuropathy or pain disorder
Gene: APOA1
Numerous APOA1 variants have been associated with OMIM:105200. 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
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Amyloidosis, 3 or more types, OMIM:105200
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, 1:41 p.m. | Last Modified: 6 Dec 2019, 1:41 p.m.
Panel Version: 0.25
Gene remains rated as Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart).. Extension of panel scope - minor feature. Amyloidosis - most cases visceral amyloidosis but 1 family with neurological phenotype- rate Red.
Created: 5 Dec 2019, 11:37 a.m. | Last Modified: 6 Dec 2019, 1:40 p.m.
Panel Version: 0.25
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, 9:07 p.m. | Last Modified: 17 Mar 2024, 9:07 p.m.
Panel Version: 3.83
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Renal failure, Axonal sensory-motor neuropathy similar to TTR FAP, amyloid nephropathy
Publications
Tag Q2_24_promote_green tag was added to gene: APOA1. Tag Q2_24_NHS_review tag was added to gene: APOA1.
Gene: apoa1 has been classified as Amber List (Moderate Evidence).
gene: APOA1 was added gene: APOA1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: APOA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: APOA1 were set to 23730806 Phenotypes for gene: APOA1 were set to Renal failure, Axonal sensory-motor neuropathy similar to TTR FAP, amyloid nephropathy