Coarse facial features including Coffin-Siris-like disorders
Gene: ABCC9EnsemblGeneIds (GRCh38): ENSG00000069431
EnsemblGeneIds (GRCh37): ENSG00000069431
OMIM: 601439, Gene2Phenotype
ABCC9 is in 14 panels
2 reviews
Alice Gardham (Genomics England)
Comment on list classification: Known to cause Cantu syndrome which is associated with hypertrichosis, neonatal macrosomia, osteochondrodysplasia, cardiomegaly and coarse facial featuresCreated: 23 Nov 2016, 9:51 a.m.
Alice Gardham (North West Thames Genetics)
Phenotypes
Cantu
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Hypertrichotic osteochondrodysplasia 239850
- OMIM
- 601439
- Clinvar variants
- Variants in ABCC9
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Brugada syndrome and cardiac sodium channel disease
- Short QT syndrome
- Paediatric or syndromic cardiomyopathy
- Hereditary neuropathy
- Fetal anomalies
- Skeletal dysplasia
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Dilated Cardiomyopathy and conduction defects
- DDG2P
- Hereditary neuropathy or pain disorder
- Familial Hirschsprung Disease
- Dilated and arrhythmogenic cardiomyopathy
- Intellectual disability
- Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
History Filter Activity
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Upload gene information
Alice Gardham (Genomics England)ABCC9 was added to Coarse facial features including Coffin-Siris-like disorderspanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN
Set Phenotypes
Alice Gardham (Genomics England)Phenotypes for gene ABCC9 were set to Hypertrichotic osteochondrodysplasia 239850
Approved Gene
Ellen McDonagh (Genomics England Curator)This proposed gene was validated and added to this panel
Added New Source
Alice Gardham (North West Thames Genetics)ABCC9 was added to Coarse facial features including Coffin-Siris-like disorderspanel. Sources: UKGTN
Created
Alice Gardham (North West Thames Genetics)ABCC9 was created by alicegardham