Genomics England
GMS Panels
Panels
Genes and Entities

ABCC9

ATP binding cassette subfamily C member 9
OMIM: 601439
PanelMode of inheritanceDetails
5 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
CANTU SYNDROME HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA 239850
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
CANTU SYNDROME HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA
Green
in Intellectual disability - microarray and sequencing
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cardiomyopathy, dilated, 10, 608569, Atrial fibrillation, familial, 12, 614050, Hypertrichotic osteochondrodysplasia, 239850, CANTU SYNDROME HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA
Green
in Paediatric or syndromic cardiomyopathy
Component of the following Super Panels:
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R135
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Dilated Cardiomyopathy, Dominant, Cardiomyopathy, dilated, 1O
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Hypertrichotic osteochondrodysplasia 23985 (Cantu syndrome), Hypertrichotic osteochondrodysplasia 239850