Gene Symbol:
ABCB4
HGNC:45
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
7q21.12
Filters:

Ambry Genetics classifications

low phospholipid associated cholelithiasis
Submitted as: OMIM:600803
SD
04/14/2016
Evaluated
03/02/2021
Submitted
AD
01/31/2018
Evaluated
09/28/2021
Submitted

ClinGen classifications

progressive familial intrahepatic cholestasis type 3
AR
11/23/2022
Evaluated
04/21/2024
Submitted

Invitae classifications

low phospholipid associated cholelithiasis
Submitted as: OMIM:600803
AD
11/17/2022
Evaluated
11/30/2023
Submitted
progressive familial intrahepatic cholestasis type 3
Submitted as: OMIM:602347
AR
04/17/2023
Evaluated
11/30/2023
Submitted

Orphanet classifications

low phospholipid associated cholelithiasis
Submitted as: Orphanet:69663
AD
09/14/2021
Evaluated
09/14/2021
Submitted
progressive familial intrahepatic cholestasis type 3
Submitted as: Orphanet:79305
AR
09/14/2021
Evaluated
09/14/2021
Submitted

The GenCC data are available free of restriction under a CC0 1.0 Universal (CC0 1.0) Public Domain Dedication. The GenCC requests that you give attribution to GenCC and the contributing sources whenever possible and appropriate. The accepted Flagship manuscript is now available from Genetics in Medicine (https://www.gimjournal.org/article/S1098-3600(22)00746-8/fulltext).

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The GenCC does not independently verify the submitted information. Though the information is obtained from sources believed to be reliable, no warranty, expressed or implied, is made regarding accuracy, adequacy, completeness, reliability or usefulness of any information. This disclaimer applies to both isolated and aggregate uses of the information. The information is provided on an "as is" basis, collected through periodic submission and therefore may not represent the most up-to-date information from the submitters. If you have questions about the medical relevance of information contained on this website, please see a healthcare professional; if you have questions about specific gene-disease claims, please contact the relevant sources; and if you have questions about the representation of the data on this website, please contact gencc@thegencc.org.