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Hereditary neuropathy NOT PMP22 copy number

Gene: ABCA1

Green List (high evidence)

ABCA1 (ATP binding cassette subfamily A member 1)
EnsemblGeneIds (GRCh38): ENSG00000165029
EnsemblGeneIds (GRCh37): ENSG00000165029
OMIM: 600046, Gene2Phenotype
ABCA1 is in 7 panels

3 reviews

Zornitza Stark (Australian Genomics)

I don't know

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

Louise Daugherty (Genomics England Curator)

I don't know

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.

Alexander Rossor (UCL Institute of Neurology)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Tangier disease. Multifocal relapsing mononeuropathies. Orange tonsils, organomegaly; pain, paresthesias, anaesthesia.

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
  • NHS GMS
  • London North GLH
Phenotypes
  • pain, paresthesias, anaesthesia
  • Multifocal relapsing mononeuropathies. Orange tonsils, organomegaly
  • Tangier disease, 205400
OMIM
600046
Clinvar variants
Variants in ABCA1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: abca1 has been classified as Green List (High Evidence).

5 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: abca1 has been classified as Amber List (Moderate Evidence).

5 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

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