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Newborns main panel

Gene: ABCB4

Green List (high evidence)
ABCB4 (ATP binding cassette subfamily B member 4)
EnsemblGeneIds (GRCh38): ENSG00000005471
EnsemblGeneIds (GRCh37): ENSG00000005471
OMIM: 171060, Gene2Phenotype
ABCB4 is in 5 panels

1 review

Arina Puzriakova (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF)
Created: 31 Dec 2025, 2:36 p.m. | Last Modified: 31 Dec 2025, 2:36 p.m.
Panel Version: 0.499
PMID: 17726488 (18 cases) , PMID: 29238877 (2 cases), PMID: 9419367 (2 cases), PubMed: 9923886 (1 case)
Created: 31 Dec 2025, 2:27 p.m. | Last Modified: 31 Dec 2025, 2:27 p.m.
Panel Version: 0.498
Created: 31 Dec 2025, 2:27 p.m.
Last Modified: 31 Dec 2025, 2:27 p.m.
Panel version: 0.499

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Cholestasis, progressive familial intrahepatic 3
OMIM
171060
Clinvar variants
Variants in ABCB4
Penetrance
None
Panels with this gene

History Filter Activity

31 Dec 2025, Gel status: 3

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

Arina Puzriakova (Genomics England Curator)

gene: ABCB4 was added gene: ABCB4 was added to Newborns main panel. Sources: Expert Review Green Mode of inheritance for gene: ABCB4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ABCB4 were set to Cholestasis, progressive familial intrahepatic 3