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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

3 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Created: 31 Jan 2019, 10:26 a.m.
Initial gene list and info collated by Miranda Durkie Sheffield Diagnostic Genetics Service December 2018 on behalf of the GMS Gastrohepatology specialist test group. Gene Symbol submitted: ABCB11; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given
Created: 7 Jan 2019, 4:42 p.m.
Created: 7 Jan 2019, 4:42 p.m.

Panel version: 0.3

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

Created: 16 Jun 2018, 4:46 p.m.

Panel version: Imported from Neonatal cholestasis panel version 0.18

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

Created: 1 Jun 2018, 12:40 p.m.

Panel version: Imported from Neonatal cholestasis panel version 0.18

Details

Mode of Inheritance
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
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

31 Jan 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

14 Jan 2019, Gel status: 4

Added New Source, Set mode of inheritance, Set mode of pathogenicity, Set Phenotypes

Ivone Leong (Genomics England Curator)

Source Other was added to ABCB11. Mode of inheritance for gene ABCB11 was changed from to BIALLELIC, autosomal or pseudoautosomal Mode of pathogenicity for gene ABCB11 was changed from to Other - please provide details in the comments Added 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 for gene: ABCB11

7 Jan 2019, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Green was added to ABCB11. Rating Changed from Red List (low evidence) to Green List (high evidence)

7 Jan 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

gene: ABCB11 was added gene: ABCB11 was added to Cholestasis. Sources: NHS GMS Mode of inheritance for gene: ABCB11 was set to