Hereditary neuropathy
Gene: APOA1
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
Gene remains rated as Red : 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.
R78 was going to be broadened to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. Subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for this panel to be restricted to genes that are associated with isolated neuropathy.Created: 5 Dec 2019, 11:37 a.m. | Last Modified: 5 Dec 2019, 11:38 a.m.
Panel Version: 1.339
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
Phenotypes
Renal failure, Axonal sensory-motor neuropathy similar to TTR FAP, amyloid nephropathy
Publications
Source Expert Review Amber was added to APOA1. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Gene: apoa1 has been classified as Red List (Low Evidence).
Gene: apoa1 has been classified as Green List (High Evidence).
Phenotypes for gene: APOA1 were changed from to Renal failure, Axonal sensory-motor neuropathy similar to TTR FAP, amyloid nephropathy
Publications for gene: APOA1 were set to
Mode of inheritance for gene: APOA1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Source NHS GMS was added to APOA1.
gene: APOA1 was added gene: APOA1 was added to Hereditary neuropathy. Sources: London North GLH Mode of inheritance for gene: APOA1 was set to