Miscellaneous Metabolic Disorders

Gene: ATP8B1

Green List (high evidence)

ATP8B1 (ATPase phospholipid transporting 8B1)
EnsemblGeneIds (GRCh38): ENSG00000081923
EnsemblGeneIds (GRCh37): ENSG00000081923
OMIM: 602397, Gene2Phenotype
ATP8B1 is in 11 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Well-established gene-disease association (see OMIM entry). ATP8B1 deficiency can cause bile acid synthesis defects.
Sources: NHS GMS
Created: 2 Feb 2021, 6:25 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cholestasis, progressive familial intrahepatic 1 MIM#211600; disorder of bile acid metabolism

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Cholestasis, progressive familial intrahepatic 1 MIM#211600
  • disorder of bile acid metabolism
OMIM
602397
Clinvar variants
Variants in ATP8B1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: atp8b1 has been classified as Green List (High Evidence).

2 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: atp8b1 has been classified as Green List (High Evidence).

2 Feb 2021, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: ATP8B1 was added gene: ATP8B1 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: ATP8B1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP8B1 were set to 9500542 Phenotypes for gene: ATP8B1 were set to Cholestasis, progressive familial intrahepatic 1 MIM#211600; disorder of bile acid metabolism Review for gene: ATP8B1 was set to GREEN