Congenital muscular dystrophy and congenital myopathy
Gene: COL9A3EnsemblGeneIds (GRCh38): ENSG00000092758
EnsemblGeneIds (GRCh37): ENSG00000092758
OMIM: 120270, Gene2Phenotype
COL9A3 is in 15 panels
2 reviews
Helen Brittain (Genomics England Curator)
Comment when marking as ready: MED presentation; appropriate for skeletal panelCreated: 3 Feb 2017, 11:50 a.m.
Comment on list classification: Presents with MED. One family with additional muscle phenotypeCreated: 3 Feb 2017, 11:48 a.m.
Mutations to date in 4 unrelated families with MED have involved in frame deletions (skipping of exon 3). One family reported with a myopathic phenotype in addition, however an unrelated family with the same mutation only had MED. Insufficient evidence for congenital myopathy.Created: 30 Jan 2017, 2:55 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Epiphyseal dysplasia, multiple, 3, with or without myopathy 600969
Publications
Mode of pathogenicity
Other
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Radboud University Medical Center, Nijmegen
- Expert Review Red
- Phenotypes
-
- Epiphyseal dysplasia, multiple, 3, with or without myopathy, OMIM:600969
- OMIM
- 120270
- Clinvar variants
- Variants in COL9A3
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Monogenic hearing loss
- Thoracic aortic aneurysm or dissection (GMS)
- Clefting
- Stickler syndrome
- Skeletal dysplasia
- Arthrogryposis
- Ehlers Danlos syndrome with a likely monogenic cause
- Retinal disorders
- Osteogenesis imperfecta
- Multiple Epiphyseal Dysplasia
- Intellectual disability
- Congenital myopathy
- Thoracic aortic aneurysm or dissection
- Fetal anomalies
- DDG2P
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Arina Puzriakova (Genomics England Curator)gene: COL9A3 was added gene: COL9A3 was added to Congenital muscular dystrophy and congenital myopathy. Sources: Expert Review Red,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: COL9A3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: COL9A3 were set to 10655510; 10678658 Phenotypes for gene: COL9A3 were set to Epiphyseal dysplasia, multiple, 3, with or without myopathy, OMIM:600969 Penetrance for gene: COL9A3 were set to Complete