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  2. Liver Failure_Paediatric
  3. ABCB11
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Liver Failure_Paediatric

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 11 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.
Sources: Expert list
Created: 5 Nov 2020, 10:17 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cholestasis, progressive familial intrahepatic 2, MIM# 601847

Publications

Created: 5 Nov 2020, 10:17 p.m.

Panel version: 0.109

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Cholestasis, progressive familial intrahepatic 2, MIM# 601847
OMIM
603201
Clinvar variants
Variants in ABCB11
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Nov 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

5 Nov 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

5 Nov 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ABCB11 was added gene: ABCB11 was added to Liver Failure_Paediatric. Sources: Expert list Mode of inheritance for gene: ABCB11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ABCB11 were set to 9806540 Phenotypes for gene: ABCB11 were set to Cholestasis, progressive familial intrahepatic 2, MIM# 601847 Review for gene: ABCB11 was set to GREEN