Neonatal cholestasis

Gene: ABCB11

Green List (high evidence)

ABCB11 (ATP binding cassette subfamily B member 11)
EnsemblGeneIds (GRCh38): ENSG00000073734
EnsemblGeneIds (GRCh37): ENSG00000073734
OMIM: 603201, Gene2Phenotype
ABCB11 is in 8 panels

2 reviews

Jane Hartley (Birmingham Women and Children's Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
progressive familial intrahepatic cholestasis; benign intrahepatic cholestasis; intrahepatic cholestasis in pregnancy; cholestasis; modifier in other cholestatic conditions

Variants in this GENE are reported as part of current diagnostic practice

Thalia Antoniadi (West Midlands Regional Genetics Laboratory)

Green List (high evidence)

LOF variants cause disease; but also missense variants cause disease
Created: 1 Jun 2018, 12:40 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cholestasis; PFIC2

Mode of pathogenicity
Other

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
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
OMIM
603201
Clinvar variants
Variants in ABCB11
Penetrance
None
Mode of Pathogenicity
Other - please provide details in the comments
Panels with this gene

History Filter Activity

3 Sep 2018, Gel status: 4

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

This panel has been subjected to extensive internal and external review.

25 Jul 2018, Gel status: 4

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: abcb11 has been classified as Green List (High Evidence).

25 Jul 2018, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: ABCB11 were set to 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

25 Jul 2018, Gel status: 4

Set mode of pathogenicity

Louise Daugherty (Genomics England Curator)

Mode of pathogenicity for gene: ABCB11 was changed to Other - please provide details in the comments

21 Jun 2018, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

Victorian Clinical Genetics Services was added to ABCB11. Panel: Cholestasis

18 May 2018, Gel status: 4

Added New Source, Set penetrance

Ellen McDonagh (Genomics England Curator)

Illumina TruGenome Clinical Sequencing Services was added to ABCB11. Panel: Cholestasis Phenotypes for gene ABCB11 were set to Neonatal and Adult Cholestasis, Cholestasis, benign recurrent intrahepatic, 2, 605479, Cholestasis, progressive familial intrahepatic 2, 601847, Cholestasis, Progressive Familial Intrahepatic 2, Familial Intrahepatic Cholestasis

18 May 2018, Gel status: 3

Added New Source, Set mode of inheritance, Set penetrance

Ellen McDonagh (Genomics England Curator)

UKGTN was added to ABCB11. Panel: Cholestasis Model of inheritance for gene ABCB11 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene ABCB11 were set to Neonatal and Adult Cholestasis, Cholestasis, benign recurrent intrahepatic, 2, 605479, Cholestasis, progressive familial intrahepatic 2, 601847, Cholestasis, Progressive Familial Intrahepatic 2

18 May 2018, Gel status: 2

Added New Source, Set penetrance

Ellen McDonagh (Genomics England Curator)

Radboud University Medical Center, Nijmegen was added to ABCB11. Panel: Cholestasis Phenotypes for gene ABCB11 were set to Neonatal and Adult Cholestasis, Cholestasis, benign recurrent intrahepatic, 2, 605479, Cholestasis, progressive familial intrahepatic 2, 601847

18 May 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ABCB11 was added to Cholestasis panel. Sources: Emory Genetics Laboratory

18 May 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

ABCB11 was created by Ellen McDonagh