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Mendeliome

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

Katrina Bell (Murdoch Children's Research Institute)

Green List (high evidence)

VBDSZB DFAZZD
Created: 17 Feb 2025, 10:48 p.m. | Last Modified: 17 Feb 2025, 10:48 p.m.
Panel Version: 1.2301

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Campomelic dysplasia with autosomal sex reversal 114290

Publications

  • X VX

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Tangier disease is an autosomal recessive disorder characterized by markedly reduced levels of plasma high density lipoproteins (HDL) resulting in tissue accumulation of cholesterol esters. Clinical features include very large, yellow-orange tonsils, enlarged liver, spleen and lymph nodes, hypocholesterolemia, and abnormal chylomicron remnants. Mono-allelic variants cause HDL deficiency.
Created: 29 Aug 2020, 7:57 a.m. | Last Modified: 29 Aug 2020, 7:57 a.m.
Panel Version: 0.4006

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Tangier disease, MIM# 205400; HDL deficiency, familial, 1, MIM# 604091

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Tangier disease, MIM# 205400
  • HDL deficiency, familial, 1, MIM# 604091
Tags
somatic 5'UTR
OMIM
600046
Clinvar variants
Variants in ABCA1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Feb 2025, Gel status: 3

Added Tag, Added Tag

Katrina Bell (Murdoch Children's Research Institute)

Tag somatic tag was added to gene: ABCA1. Tag 5'UTR tag was added to gene: ABCA1.

24 Apr 2021, 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).

29 Aug 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ABCA1 were changed from to Tangier disease, MIM# 205400; HDL deficiency, familial, 1, MIM# 604091

29 Aug 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ABCA1 were set to

29 Aug 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ABCA1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ABCA1 was added gene: ABCA1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ABCA1 was set to Unknown