1. Panels
  2. Hereditary Neuropathy - complex
  3. ABCA1
Regions in panel
Prev Next

Hereditary Neuropathy - complex

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 5 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Neuropathy is a feature of this metabolic disorder. 54 individuals with neuropathy summarised in PMID 29582519.
Created: 2 Aug 2023, 4:45 a.m. | Last Modified: 2 Aug 2023, 4:48 a.m.
Panel Version: 0.205

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Tangier Disease (MONDO:0008783; MIM#205400)

Publications

Created: 2 Aug 2023, 4:45 a.m.
Last Modified: 2 Aug 2023, 4:48 a.m.
Panel version: 0.205

Sangavi Sivagnanasundram (Melbourne Health)

I don't know

Clinical signs of Tangier disease include hyper plastic yellow-orange tonsils, hepatosplenomegaly and peripheral neuropathy. Neuropathy can be either relapsing remitting or chronic progressive feature however isn't reported in many families as a feature in ABCA1-related Tangier Disease.

PMID: 31751110 - LoF variants disrupt protein trafficking result in reduced protein activity.

PMID: 4165386
two siblings present with homozygous mutations causative of Tangier Disease. Both siblings had symptoms of neuropathy in conjunction with low total plasma cholesterol.
Created: 1 Aug 2023, 2:28 a.m. | Last Modified: 1 Aug 2023, 2:28 a.m.
Panel Version: 0.205

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Tangier Disease (MONDO:0008783; MIM#205400)

Publications

Created: 1 Aug 2023, 2:28 a.m.
Last Modified: 1 Aug 2023, 2:28 a.m.
Panel version: 0.205

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Tangier Disease (MONDO:0008783
  • MIM#205400)
OMIM
600046
Clinvar variants
Variants in ABCA1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Aug 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

2 Aug 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ABCA1 were changed from HMSN; Tangier disease to Tangier Disease (MONDO:0008783; MIM#205400)

2 Aug 2023, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ABCA1 were set to

13 Jan 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: ABCA1 was added gene: ABCA1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: ABCA1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ABCA1 were set to HMSN; Tangier disease