Gene Symbol:
ABCB6
HGNC:47
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
2q35
Filters:

Invitae classifications

dyschromatosis universalis hereditaria 3
Submitted as: OMIM:615402
AD
07/31/2017
Evaluated
11/30/2023
Submitted
microphthalmia, isolated, with coloboma 7
Submitted as: OMIM:614497
AD
04/09/2020
Evaluated
11/30/2023
Submitted

Orphanet classifications

dyschromatosis universalis hereditaria
Submitted as: Orphanet:241
AD
09/14/2021
Evaluated
09/14/2021
Submitted
familial pseudohyperkalemia
Submitted as: Orphanet:90044
AD
09/14/2021
Evaluated
09/14/2021
Submitted
microphthalmia, isolated, with coloboma
Submitted as: Orphanet:98938
AD
09/14/2021
Evaluated
09/14/2021
Submitted

PanelApp Australia classifications

microphthalmia, isolated, with coloboma 7
Submitted as: OMIM:614497
AD
12/28/2020
Evaluated
12/30/2020
Submitted

G2P classifications

microphthalmia, isolated, with coloboma 7
Submitted as: OMIM:614497
AD
07/22/2015
Evaluated
09/11/2023
Submitted

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