Neonatal cholestasis

Gene: ABCB4

Green List (high evidence)

ABCB4 (ATP binding cassette subfamily B member 4)
EnsemblGeneIds (GRCh38): ENSG00000005471
EnsemblGeneIds (GRCh37): ENSG00000005471
OMIM: 171060, Gene2Phenotype
ABCB4 is in 6 panels

3 reviews

Louise Daugherty (Genomics England Curator)

Comment on mode of inheritance: changed MOI from external clinical review and publications
Created: 25 Jul 2018, 2:16 p.m.
Comment on phenotypes: added Added phenotypes suggested from external expert review.
Created: 25 Jul 2018, 2:15 p.m.

Jane Hartley (Birmingham Women and Children's Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
PFIC3; progressive familial intrahepatic cholestasis; benign recurrent intrahepatic cholestasis; intrahepatic cholestasis of pregnancy; cholelithiasis; gallstones; modifier in other forms of genetic cholestasis

Thalia Antoniadi (West Midlands Regional Genetics Laboratory)

Green List (high evidence)

majority of pathogenic variants are missense variants; but there are nonsense and splicing variants, too.
Created: 1 Jun 2018, 12:46 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Cholestasis; PFIC; PFIC3

Mode of pathogenicity
Other

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

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
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
OMIM
171060
Clinvar variants
Variants in ABCB4
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: abcb4 has been classified as Green List (High Evidence).

25 Jul 2018, Gel status: 4

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: ABCB4 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

25 Jul 2018, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: ABCB4 were set to 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

25 Jul 2018, Gel status: 4

Set mode of pathogenicity

Louise Daugherty (Genomics England Curator)

Mode of pathogenicity for gene: ABCB4 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 ABCB4. Panel: Cholestasis

18 May 2018, Gel status: 4

Set penetrance

Ellen McDonagh (Genomics England Curator)

Phenotypes for gene ABCB4 were set to 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

18 May 2018, Gel status: 4

Added New Source, Set penetrance

Ellen McDonagh (Genomics England Curator)

Illumina TruGenome Clinical Sequencing Services was added to ABCB4. Panel: Cholestasis Phenotypes for gene ABCB4 were set to Neonatal and Adult Cholestasis, Cholestasis, intrahepatic, of pregnancy, 3, 614972, Cholestasis, progressive familial intrahepatic 3, 602347, Cholestasis, Progressive Familial Intrahepatic 3, 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 ABCB4. Panel: Cholestasis Model of inheritance for gene ABCB4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene ABCB4 were set to Neonatal and Adult Cholestasis, Cholestasis, intrahepatic, of pregnancy, 3, 614972, Cholestasis, progressive familial intrahepatic 3, 602347, Cholestasis, Progressive Familial Intrahepatic 3

18 May 2018, Gel status: 2

Added New Source, Set penetrance

Ellen McDonagh (Genomics England Curator)

Radboud University Medical Center, Nijmegen was added to ABCB4. Panel: Cholestasis Phenotypes for gene ABCB4 were set to Neonatal and Adult Cholestasis, Cholestasis, intrahepatic, of pregnancy, 3, 614972, Cholestasis, progressive familial intrahepatic 3, 602347

18 May 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ABCB4 was added to Cholestasis panel. Sources: Emory Genetics Laboratory

18 May 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

ABCB4 was created by Ellen McDonagh