Gene Symbol:
ABCC9
HGNC:60
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
12p12.1
Filters:

Ambry Genetics classifications

hypertrichotic osteochondrodysplasia Cantu type
Submitted as: OMIM:239850
AD
05/01/2018
Evaluated
03/02/2021
Submitted
dilated cardiomyopathy 1O
Submitted as: OMIM:608569
AD
05/01/2018
Evaluated
03/02/2021
Submitted
intellectual disability and myopathy syndrome
Submitted as: OMIM:619719
AR
06/07/2023
Evaluated
08/19/2023
Submitted

ClinGen classifications

dilated cardiomyopathy
AD
11/13/2020
Evaluated
10/18/2023
Submitted

Genomics England PanelApp classifications

AD
03/02/2021
Evaluated
03/31/2021
Submitted

Illumina classifications

dilated cardiomyopathy 1O
Submitted as: OMIM:608569
AD
04/09/2019
Evaluated
10/15/2020
Submitted
Illumina
Evidence: The ABCC9 gene is located on chromosome 12 at 12p12.1 and encodes the ATP binding cassette subfamily... Read more

Invitae classifications

hypertrichotic osteochondrodysplasia Cantu type
Submitted as: OMIM:239850
AD
07/05/2023
Evaluated
11/30/2023
Submitted
dilated cardiomyopathy 1O
Submitted as: OMIM:608569
AD
07/07/2017
Evaluated
11/30/2023
Submitted
atrial fibrillation, familial, 12
Submitted as: OMIM:614050
Unknown
04/09/2020
Evaluated
11/30/2023
Submitted
intellectual disability and myopathy syndrome
Submitted as: OMIM:619719
AR
01/31/2022
Evaluated
11/30/2023
Submitted

Orphanet classifications

familial isolated dilated cardiomyopathy
Submitted as: Orphanet:154
AD
09/14/2021
Evaluated
09/14/2021
Submitted
acromegaloid facial appearance syndrome
Submitted as: Orphanet:965
AD
09/14/2021
Evaluated
09/14/2021
Submitted
hypertrichosis-acromegaloid facial appearance syndrome
Submitted as: Orphanet:966
AD
09/14/2021
Evaluated
09/14/2021
Submitted
hypertrichotic osteochondrodysplasia Cantu type
Submitted as: Orphanet:1517
AD
09/14/2021
Evaluated
09/14/2021
Submitted

G2P classifications

hypertrichotic osteochondrodysplasia Cantu type
Submitted as: OMIM:239850
AD
07/22/2015
Evaluated
09/11/2023
Submitted

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