This Panel is marked as Deleted
GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: ABCC9
ABCC9 (ATP binding cassette subfamily C member 9)
EnsemblGeneIds (GRCh38): ENSG00000069431
EnsemblGeneIds (GRCh37): ENSG00000069431
OMIM: 601439, Gene2Phenotype
ABCC9 is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000069431
EnsemblGeneIds (GRCh37): ENSG00000069431
OMIM: 601439, Gene2Phenotype
ABCC9 is in 14 panels
1 review
Tracy Lester (Genetics laboratory, Oxford UK)
distinct osteochondrodysplasia, metaphyseal widening of long bones. Short stature in a few individuals, ultimate adult height in normal range. Green - Some short stature though many newborns have macrosomia. Other skeletal abnormalities.; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:52 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Hypertrichotic osteochondrodysplasia 23985 (Cantu syndrome)
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Hypertrichotic osteochondrodysplasia 23985 (Cantu syndrome)
- OMIM
- 601439
- Clinvar variants
- Variants in ABCC9
- Penetrance
- None
- Panels with this gene
-
- Paediatric or syndromic cardiomyopathy
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Short QT syndrome
- Intellectual disability
- Hereditary neuropathy or pain disorder
- Brugada syndrome and cardiac sodium channel disease
- Dilated Cardiomyopathy and conduction defects
- Fetal anomalies
- DDG2P
- Skeletal dysplasia
- Familial Hirschsprung Disease
- Hereditary neuropathy
- Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
- Dilated and arrhythmogenic cardiomyopathy
History Filter Activity
6 Mar 2019, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: ABCC9 was added gene: ABCC9 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: ABCC9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ABCC9 were set to Hypertrichotic osteochondrodysplasia 23985 (Cantu syndrome)