Miscellaneous Metabolic Disorders
Gene: ATP8B1EnsemblGeneIds (GRCh38): ENSG00000081923
EnsemblGeneIds (GRCh37): ENSG00000081923
OMIM: 602397, Gene2Phenotype
ATP8B1 is in 11 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Well-established gene-disease association (see OMIM entry). ATP8B1 deficiency can cause bile acid synthesis defects.
Sources: NHS GMSCreated: 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
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: atp8b1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: atp8b1 has been classified as Green List (High Evidence).
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