ABCB4

ATP binding cassette subfamily B member 4
OMIM: 171060, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Green ABCB4 in Neonatal cholestasis

Level 3: Liver disease
Level 2: Gastroenterological disorders
Version 1.26

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • 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
Green ABCB4 in Cholestasis


Version 3.4
Latest signed off version: v3.0 (22 Mar 2023)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • NHS GMS
Phenotypes
  • Progressive Familial Intrahepatic Cholestasis
  • modifier in other forms of genetic cholestasis
  • Familial Intrahepatic Cholestasis
  • gallstones
  • cholelithiasis
  • PFIC
  • PFIC3
  • Cholestasis, progressive familial intrahepatic 3, 602347
  • Cholestasis, intrahepatic, of pregnancy, 3, 614972
  • Neonatal and Adult Cholestasis
  • Cholestasis, Progressive Familial Intrahepatic 3
Green ABCB4 in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.613

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Progressive familial intrahepatic cholestasis type 3 (Disorders of bile acid metabolism and transport)
  • Cholestasis, intrahepatic, of pregnancy, 3 614972 AD, AR
  • Cholestasis, progressive familial intrahepatic 3 602347 AR
  • Gallbladder disease 1 600803 AD, AR
Green ABCB4 in Likely inborn error of metabolism - targeted testing not possible


Version 4.131
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Gallbladder disease 1 600803 AD, AR
    • Cholestasis, progressive familial intrahepatic 3 602347 AR
    • Progressive familial intrahepatic cholestasis type 3 (Disorders of bile acid metabolism and transport)
    • Cholestasis, intrahepatic, of pregnancy, 3 614972 AD, AR
    Red ABCB4 in Childhood onset dystonia, chorea or related movement disorder


    Version 3.71
    Latest signed off version: v3.0 (22 Mar 2023)

    review Not set
    Sources
    • Expert Review Red
    • London North GLH
    Green ABCB4 in Severe Paediatric Disorders


    Version 1.182

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Cholestasis, progressive familial intrahepatic 3, 602347
    • Gallbladder disease 1, 600803
    • Cholestasis, intrahepatic, of pregnancy, 3, 614972