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Severe Paediatric Disorders

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

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: ABCB4; Recommended initial gene rating: Green List (high evidence); Phenotypes: Cholestasis, intrahepatic, of pregnancy, 3, 614972 (3) | Cholestasis, progressive familial intrahepatic 3, 602347 (3) | Gallbladder disease 1, 600803 (3); Mode of inheritance: Autosomal recessive, Autosomal dominant | Autosomal recessive | Autosomal recessive, Autosomal dominant
Created: 20 Feb 2020, 5:15 p.m. | Last Modified: 20 Feb 2020, 5:15 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Cholestasis, progressive familial intrahepatic 3, 602347
  • Gallbladder disease 1, 600803
  • Cholestasis, intrahepatic, of pregnancy, 3, 614972
OMIM
171060
Clinvar variants
Variants in ABCB4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Feb 2020, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)