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
-
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- 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
-
- Thoracic aortic aneurysm or dissection (GMS)
- DDG2P
- Intellectual disability
- Stickler syndrome
- Osteogenesis imperfecta
- Clefting
- Retinal disorders
- Multiple Epiphyseal Dysplasia
- Congenital myopathy
- Thoracic aortic aneurysm or dissection
- Arthrogryposis
- Monogenic hearing loss
- Ehlers Danlos syndrome with a likely monogenic cause
- Fetal anomalies
- Skeletal dysplasia
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: COL9A3 were changed from Epiphyseal dysplasia, multiple, 3, with or without myopathy 600969 to Epiphyseal dysplasia, multiple, 3, with or without myopathy, OMIM:600969
panel promoted to version 1
Helen Brittain (Genomics England Curator)Promoted 22/02/2017 after curation discussion and further review with members of the Genomics England curation team. Participants who are offered this panel will automatically be offered the following three panels: 1) Congenital muscular dystrophy 2) Congenital myasthenia and 3) Paediatric motor neuronopathy as this will cover a large range of differentials for a weak infant, for where the strict inclusion criteria are not applicable in view of the availability of muscle biopsy testing in peripheral paediatric units.
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set Phenotypes
Helen Brittain (Genomics England Curator)Phenotypes for COL9A3 were set to Epiphyseal dysplasia, multiple, 3, with or without myopathy 600969
Set publications
Helen Brittain (Genomics England Curator)Publications for COL9A3 were set to 10655510; 10678658
Set Mode of Inheritance
Helen Brittain (Genomics England Curator)Mode of inheritance for COL9A3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Added New Source
GEL ()COL9A3 was added to Congenital myopathypanel. Sources: Radboud University Medical Center, Nijmegen