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  2. TEST Undiagnosed metabolic disorders
  3. ABCA1
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TEST Undiagnosed metabolic disorders

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 6 panels

1 review

Ivone Leong (test)

Green List (high evidence)

TEST2
Created: 20 Aug 2019, 12:19 p.m. | Last Modified: 20 Aug 2019, 12:19 p.m.
Panel Version: 0.4
TEST review!
Created: 20 Aug 2019, 11:07 a.m. | Last Modified: 20 Aug 2019, 11:07 a.m.
Panel Version: 0.1
Created: 20 Aug 2019, 11:07 a.m.
Last Modified: 20 Aug 2019, 11:07 a.m.
Panel version: 0.4

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
OMIM
600046
Clinvar variants
Variants in ABCA1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Aug 2019, Gel status: 3

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

Sarah Leigh (Genomics England Curator)

gene: ABCA1 was added gene: ABCA1 was added to TEST Undiagnosed metabolic disorders. Sources: Literature,Expert Review Green Mode of inheritance for gene: ABCA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ABCA1 were set to 27604308