Neonatal cholestasis
Gene: ABCC2Comment on phenotypes: Added phenotypes suggested from external expert review.Created: 25 Jul 2018, 2:23 p.m.
Comment on list classification: More than 10 neonatal/infantile cases reported, and a green review.Created: 25 Jul 2018, 10:52 a.m.
Comment on publications: PMID: 29499989 - all 10 pateints with neonatal Dubin-Johnson syndrome had cholestasis, and homozygous or compound heterozygous pathogenic variants in ABCC2 were identified in all patients.Created: 25 Jul 2018, 10:48 a.m.
Comment on list classification: Cholestasis is a feature of Dubin-Johnson syndrome.Created: 25 Jul 2018, 10:38 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cholestasis; intrahepatic cholestasis of pregnancy; modifier in biliary atresia; Dubin Johnson syndrome
This panel has been subjected to extensive internal and external review.
Phenotypes for gene: ABCC2 were set to Dubin-Johnson syndrome, 237500; Cholestasis; intrahepatic cholestasis of pregnancy; modifier in biliary atresia; Dubin Johnson syndrome
Gene: abcc2 has been classified as Green List (High Evidence).
Mode of inheritance for gene: ABCC2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Gene: abcc2 has been classified as Green List (High Evidence).
Publications for gene: ABCC2 were set to 9425227; 10053008; 12942343; 21044052; 11477083; 11477083; 11477083; 29707407; 29499989
Publications for gene: ABCC2 were set to 9425227; 10053008; 12942343; 21044052; 11477083; 11477083; 11477083; 29707407
Publications for gene: ABCC2 were set to 9425227; 10053008; 12942343; 21044052; 11477083; 11477083; 11477083
Gene: abcc2 has been classified as Red List (Low Evidence).
Phenotypes for gene: ABCC2 were set to Dubin-Johnson syndrome 237500
Victorian Clinical Genetics Services was added to ABCC2. Panel: Cholestasis
ABCC2 was added to Cholestasis panel. Sources: Emory Genetics Laboratory
ABCC2 was created by Ellen McDonagh