ABCC9

ATP binding cassette subfamily C member 9
OMIM: 601439
PanelMode of inheritanceDetails
5 panels
R-numbers: R135
Signed-off version 1.4
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Dilated Cardiomyopathy, Dominant, Cardiomyopathy, dilated, 1O
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
CANTU SYNDROME HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA 239850
R-numbers: R21
Signed-off version 1.92
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
CANTU SYNDROME HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cardiomyopathy, dilated, 10, 608569, Atrial fibrillation, familial, 12, 614050, Hypertrichotic osteochondrodysplasia, 239850, CANTU SYNDROME HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Hypertrichotic osteochondrodysplasia 23985 (Cantu syndrome), Hypertrichotic osteochondrodysplasia 239850