Hereditary neuropathy or pain disorder
Gene: ABCA1Keeping as Green on this panel to ensure cases are not missed as peripheral neuropathy is a prominent presenting feature and it is plausible that this panel may be applied.Created: 6 Oct 2021, 12:41 p.m. | Last Modified: 6 Oct 2021, 12:41 p.m.
Panel Version: 1.62
This is a storage disorder with multiple other presenting features, so if the panel scope is 'isolated neuropathy' then agree this should be Amber/Red or removed to avoid confusion. However, neuropathy does seem to be a common, early presenting feature, and exclusion of the gene may lead to missed diagnoses, particularly if panel applied in isolation.Created: 30 Mar 2020, 7:22 a.m. | Last Modified: 30 Mar 2020, 7:22 a.m.
Panel Version: 1.4
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Tangier disease, MIM# 205400
Comment on list classification: Changed from Amber to Green - recommendation from Genomics England clinical ream - is a very rare condition, the primary feature can be neuropathy so if abnormalities of lipids or tonsils are missed or not present the diagnosis will not be made. However if there is a second panel to go to after the primary neuropathy panel and it is on it then it should still be diagnosed as long as a patient with primary neuropathy only would still be eligible for the more syndromic panel.Created: 13 Dec 2019, 1:55 p.m. | Last Modified: 13 Dec 2019, 1:55 p.m.
Panel Version: 0.107
The gene has changed ratings as the panel to be used for R78 was going to be 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, 1:30 p.m. | Last Modified: 6 Dec 2019, 1:30 p.m.
Panel Version: 0.21
Comment on list classification: Amber gene: Feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features/ Peripheral neuropathy with low HDL.
Created: 4 Dec 2019, 2:59 p.m. | Last Modified: 6 Dec 2019, 1:30 p.m.
Panel Version: 0.21
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
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Tangier disease. Multifocal relapsing mononeuropathies. Orange tonsils, organomegaly; pain, paresthesias, anaesthesia.
Publications
Gene: abca1 has been classified as Green List (High Evidence).
Gene: abca1 has been classified as Amber List (Moderate Evidence).
gene: ABCA1 was added gene: ABCA1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review Green Mode of inheritance for gene: ABCA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ABCA1 were set to 29582519 Phenotypes for gene: ABCA1 were set to pain, paresthesias, anaesthesia; Multifocal relapsing mononeuropathies. Orange tonsils, organomegaly; Tangier disease, 205400