ABCB11

ATP binding cassette subfamily B member 11
OMIM: 603201, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels
Green ABCB11 in Neonatal cholestasis

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

review 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, benign recurrent intrahepatic, 2, 605479
  • Cholestasis, progressive familial intrahepatic 2, 601847
  • Cholestasis, Progressive Familial Intrahepatic 2
  • Familial Intrahepatic Cholestasis
  • PFIC2
Green ABCB11 in Cholestasis


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

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • NHS GMS
Phenotypes
  • Familial Intrahepatic Cholestasis
  • Cholestasis, progressive familial intrahepatic 2, 601847
  • Cholestasis, Progressive Familial Intrahepatic 2
  • PFIC2
  • Cholestasis, benign recurrent intrahepatic, 2, 605479
  • Neonatal and Adult Cholestasis
Green ABCB11 in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.620

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Progressive familial intrahepatic cholestasis type 2 (Disorders of bile acid metabolism and transport)
  • Cholestasis, benign recurrent intrahepatic, 2 605479
  • Cholestasis, progressive familial intrahepatic 2 601847
Green ABCB11 in Likely inborn error of metabolism - targeted testing not possible


Version 5.4
Latest signed off version: v5.0 (1 May 2024)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Progressive familial intrahepatic cholestasis type 2 (Disorders of bile acid metabolism and transport)
    • Cholestasis, benign recurrent intrahepatic, 2 605479
    • Cholestasis, progressive familial intrahepatic 2 601847
    Red ABCB11 in Fetal anomalies


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • ABCB11-RELATED INTRAHEPATIC CHOLESTASIS
    Green ABCB11 in DDG2P


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • ABCB11-RELATED INTRAHEPATIC CHOLESTASIS 601847
    Red ABCB11 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.21
    Latest signed off version: v6.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Cholestasis, progressive familial intrahepatic 2, 601847
    • Cholestasis, benign recurrent intrahepatic, 2, 605479
    Red ABCB11 in Childhood onset dystonia, chorea or related movement disorder


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    review Not set
    Sources
    • Expert Review Red
    • London North GLH
    Green ABCB11 in Severe Paediatric Disorders


    Version 1.184

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Cholestasis, progressive familial intrahepatic 2, 601847
    • Cholestasis, benign recurrent intrahepatic, 2, 605479