Neonatal cholestasis
Gene: ABCB4Comment on mode of inheritance: changed MOI from external clinical review and publicationsCreated: 25 Jul 2018, 2:16 p.m.
Comment on phenotypes: added Added phenotypes suggested from external expert review.Created: 25 Jul 2018, 2:15 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PFIC3; progressive familial intrahepatic cholestasis; benign recurrent intrahepatic cholestasis; intrahepatic cholestasis of pregnancy; cholelithiasis; gallstones; modifier in other forms of genetic cholestasis
majority of pathogenic variants are missense variants; but there are nonsense and splicing variants, too.Created: 1 Jun 2018, 12:46 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Cholestasis; PFIC; PFIC3
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: abcb4 has been classified as Green List (High Evidence).
Mode of inheritance for gene: ABCB4 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ABCB4 were set to Neonatal and Adult Cholestasis; Cholestasis, intrahepatic, of pregnancy, 3, 614972; Cholestasis, progressive familial intrahepatic 3, 602347; Cholestasis, Progressive Familial Intrahepatic 3; Familial Intrahepatic Cholestasis; Progressive Familial Intrahepatic Cholestasis; cholelithiasis; gallstones; modifier in other forms of genetic cholestasis; PFIC; PFIC3
Mode of pathogenicity for gene: ABCB4 was changed to Other - please provide details in the comments
Victorian Clinical Genetics Services was added to ABCB4. Panel: Cholestasis
Phenotypes for gene ABCB4 were set to Neonatal and Adult Cholestasis, Cholestasis, intrahepatic, of pregnancy, 3, 614972, Cholestasis, progressive familial intrahepatic 3, 602347, Cholestasis, Progressive Familial Intrahepatic 3, Familial Intrahepatic Cholestasis, Progressive Familial Intrahepatic Cholestasis
Illumina TruGenome Clinical Sequencing Services was added to ABCB4. Panel: Cholestasis Phenotypes for gene ABCB4 were set to Neonatal and Adult Cholestasis, Cholestasis, intrahepatic, of pregnancy, 3, 614972, Cholestasis, progressive familial intrahepatic 3, 602347, Cholestasis, Progressive Familial Intrahepatic 3, Familial Intrahepatic Cholestasis
UKGTN was added to ABCB4. Panel: Cholestasis Model of inheritance for gene ABCB4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene ABCB4 were set to Neonatal and Adult Cholestasis, Cholestasis, intrahepatic, of pregnancy, 3, 614972, Cholestasis, progressive familial intrahepatic 3, 602347, Cholestasis, Progressive Familial Intrahepatic 3
Radboud University Medical Center, Nijmegen was added to ABCB4. Panel: Cholestasis Phenotypes for gene ABCB4 were set to Neonatal and Adult Cholestasis, Cholestasis, intrahepatic, of pregnancy, 3, 614972, Cholestasis, progressive familial intrahepatic 3, 602347
ABCB4 was added to Cholestasis panel. Sources: Emory Genetics Laboratory
ABCB4 was created by Ellen McDonagh