Neonatal cholestasis
Gene: ATP8B1Comment on mode of inheritance: changed MOICreated: 25 Jul 2018, 2:26 p.m.
Comment on mode of inheritance: changed MOI from external clinical review and publicationsCreated: 25 Jul 2018, 2:21 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PFIC1; progressive familial intrahepatic cholestasis type 1; benign recurrent intrahepatic cholestasis; intrahepatic cholestasis of pregnancy; modifier in other genetic causes of cholestasis
Majority of pathogenic variants are missense; but there are also nonsense and splicing variants
Low diagnostic rate in our cohort; 3 diagnoses in 231 patients testedCreated: 1 Jun 2018, 12:58 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Cholestasis; PFIC1; IPC1
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.
Mode of inheritance for gene: ATP8B1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Gene: atp8b1 has been classified as Green List (High Evidence).
Mode of inheritance for gene: ATP8B1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mode of pathogenicity for gene: ATP8B1 was changed to Other - please provide details in the comments
Victorian Clinical Genetics Services was added to ATP8B1. Panel: Cholestasis
Illumina TruGenome Clinical Sequencing Services was added to ATP8B1. Panel: Cholestasis Phenotypes for gene ATP8B1 were set to Neonatal and Adult Cholestasis, Cholestasis, benign recurrent intrahepatic, 243300, Cholestasis, intrahepatic, of pregnancy, 1, 147480, Cholestasis, progressive familial intrahepatic 1, 211600, Cholestasis, Progressive Familial Intrahepatic 1, Familial Intrahepatic Cholestasis
UKGTN was added to ATP8B1. Panel: Cholestasis Model of inheritance for gene ATP8B1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene ATP8B1 were set to Neonatal and Adult Cholestasis, Cholestasis, benign recurrent intrahepatic, 243300, Cholestasis, intrahepatic, of pregnancy, 1, 147480, Cholestasis, progressive familial intrahepatic 1, 211600, Cholestasis, Progressive Familial Intrahepatic 1
Radboud University Medical Center, Nijmegen was added to ATP8B1. Panel: Cholestasis Phenotypes for gene ATP8B1 were set to Neonatal and Adult Cholestasis, Cholestasis, benign recurrent intrahepatic, 243300, Cholestasis, intrahepatic, of pregnancy, 1, 147480, Cholestasis, progressive familial intrahepatic 1, 211600
ATP8B1 was added to Cholestasis panel. Sources: Emory Genetics Laboratory
ATP8B1 was created by Ellen McDonagh