Cholestasis

Gene: ABCB4

Green List (high evidence)

PMID: 18482588- 8 individuals with 6 heterozygous variants, all missense. 3 have R590Q which has also been seen in AR cases. All have cholestasis, 3 symptomatic, 1 formally diagnosed with LPAC.
PMID: 28924228- 11 different variants in 12 patients identified in ABCB4. A mix of missense and PTCs. All individuals in this study diagnosed with ICP.
PMID: 32376413- PFIC patients are predominantly AR, with less severe phenotypes such as LPAC and ICP associated with AD or AR if the variants at least partially preserve protein function.

Created: 4 Feb 2022, 4:15 a.m. | Last Modified: 4 Feb 2022, 4:15 a.m.

Panel Version: 0.219

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Cholestasis, intrahepatic, of pregnancy, 3 (MIM#614972); Gallbladder disease 1 (MIM#600803)

Publications

• PMID: 18482588
• 28924228
• 32376413

Green List (high evidence)

Well established gene-disease association.

Created: 21 Jun 2021, 11:18 a.m. | Last Modified: 21 Jun 2021, 11:18 a.m.

Panel Version: 0.192

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cholestasis, progressive familial intrahepatic 3 MIM#602347; disorder of bile acid metabolism

Publications

• 8666348
• 17726488