Neonatal cholestasis
Gene: ABCB11
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
progressive familial intrahepatic cholestasis; benign intrahepatic cholestasis; intrahepatic cholestasis in pregnancy; cholestasis; modifier in other cholestatic conditions
Variants in this GENE are reported as part of current diagnostic practice
LOF variants cause disease; but also missense variants cause diseaseCreated: 1 Jun 2018, 12:40 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cholestasis; PFIC2
Mode of pathogenicity
Other
Variants in this GENE are reported as part of current diagnostic practice
This panel has been subjected to extensive internal and external review.
Gene: abcb11 has been classified as Green List (High Evidence).
Phenotypes for gene: ABCB11 were set to Neonatal and Adult Cholestasis; Cholestasis, benign recurrent intrahepatic, 2, 605479; Cholestasis, progressive familial intrahepatic 2, 601847; Cholestasis, Progressive Familial Intrahepatic 2; Familial Intrahepatic Cholestasis; PFIC2
Mode of pathogenicity for gene: ABCB11 was changed to Other - please provide details in the comments
Victorian Clinical Genetics Services was added to ABCB11. Panel: Cholestasis
Illumina TruGenome Clinical Sequencing Services was added to ABCB11. Panel: Cholestasis Phenotypes for gene ABCB11 were set to Neonatal and Adult Cholestasis, Cholestasis, benign recurrent intrahepatic, 2, 605479, Cholestasis, progressive familial intrahepatic 2, 601847, Cholestasis, Progressive Familial Intrahepatic 2, Familial Intrahepatic Cholestasis
UKGTN was added to ABCB11. Panel: Cholestasis Model of inheritance for gene ABCB11 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene ABCB11 were set to Neonatal and Adult Cholestasis, Cholestasis, benign recurrent intrahepatic, 2, 605479, Cholestasis, progressive familial intrahepatic 2, 601847, Cholestasis, Progressive Familial Intrahepatic 2
Radboud University Medical Center, Nijmegen was added to ABCB11. Panel: Cholestasis Phenotypes for gene ABCB11 were set to Neonatal and Adult Cholestasis, Cholestasis, benign recurrent intrahepatic, 2, 605479, Cholestasis, progressive familial intrahepatic 2, 601847
ABCB11 was added to Cholestasis panel. Sources: Emory Genetics Laboratory
ABCB11 was created by Ellen McDonagh