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Mendeliome

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 10 panels

2 reviews

Lucy Spencer (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 18482588- 8 individuals with 6 heterozygous variants, all missense. 3 have R590Q which has also been seen in AR cases. All have cholestasis, 3 symptomatic, 1 formally diagnosed with LPAC.
PMID: 28924228- 11 different variants in 12 patients identified in ABCB4. A mix of missense and PTCs. All individuals in this study diagnosed with ICP.
PMID: 32376413- PFIC patients are predominantly AR, with less severe phenotypes such as LPAC and ICP associated with AD or AR if the variants at least partially preserve protein function.
Created: 4 Feb 2022, 4:14 a.m. | Last Modified: 4 Feb 2022, 4:14 a.m.
Panel Version: 0.10913

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Cholestasis, intrahepatic, of pregnancy, 3 (MIM#614972); Gallbladder disease 1 (MIM#600803)

Publications

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Well-established gene-disease association (see OMIM entry). PFIC3 is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders). ABCB4 deficiency causes an inborn error of bile acid biosynthesis.
Sources: NHS GMS
Created: 2 Feb 2021, 10:54 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cholestasis, progressive familial intrahepatic 3 MIM#602347; disorder of bile acid metabolism

Publications

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

Details

Mode of Inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Cholestasis, progressive familial intrahepatic 3 MIM#602347
  • disorder of bile acid metabolism
  • Gallbladder disease 1 (MIM#600803)
Tags
SV/CNV
OMIM
171060
Clinvar variants
Variants in ABCB4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Feb 2025, Gel status: 3

Added Tag

Katrina Bell (Murdoch Children's Research Institute)

Tag SV/CNV tag was added to gene: ABCB4.

4 Feb 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ABCB4 were changed from Cholestasis, progressive familial intrahepatic 3 MIM#602347; disorder of bile acid metabolism to Cholestasis, progressive familial intrahepatic 3 MIM#602347; disorder of bile acid metabolism; Gallbladder disease 1 (MIM#600803)

4 Feb 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ABCB4 were set to 8666348; 17726488

4 Feb 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ABCB4 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

21 Jun 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: abcb4 has been classified as Green List (High Evidence).

21 Jun 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ABCB4 were changed from to Cholestasis, progressive familial intrahepatic 3 MIM#602347; disorder of bile acid metabolism

21 Jun 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ABCB4 were set to

21 Jun 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ABCB4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ABCB4 was added gene: ABCB4 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ABCB4 was set to Unknown