Muscular dystrophy and myopathy_Paediatric
Gene: COL9A3EnsemblGeneIds (GRCh38): ENSG00000092758
EnsemblGeneIds (GRCh37): ENSG00000092758
OMIM: 120270, Gene2Phenotype
COL9A3 is in 13 panels
1 review
Ain Roesley (Victorian Clinical Genetics Services)
Not a common feature of MED, only one paper found in pubmed (search terms COL9A3 AND myopathy).
Amber so as not to miss a diagnosis
PMID: 10655510
1x male with proximal muscle weakness
Sources: LiteratureCreated: 12 Apr 2024, 4:46 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Epiphyseal dysplasia, multiple, 3, with or without myopathy MIM#600969
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Literature
- Phenotypes
-
- Epiphyseal dysplasia, multiple, 3, with or without myopathy MIM#600969
- OMIM
- 120270
- Clinvar variants
- Variants in COL9A3
- Penetrance
- None
- Publications
- Panels with this gene
-
- BabyScreen+ newborn screening
- Vitreoretinopathy
- Stickler Syndrome
- Muscular dystrophy and myopathy_Paediatric
- Pierre Robin Sequence
- Deafness_IsolatedAndComplex
- Deafness_Isolated
- Skeletal dysplasia
- Multiple epiphyseal dysplasia and pseudoachondroplasia
- Fetal anomalies
- Clefting disorders
- Additional findings_Paediatric
- Mendeliome
History Filter Activity
Entity classified by Genomics England curator
Ain Roesley (Victorian Clinical Genetics Services)Gene: col9a3 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Ain Roesley (Victorian Clinical Genetics Services)Gene: col9a3 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ain Roesley (Victorian Clinical Genetics Services)gene: COL9A3 was added gene: COL9A3 was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature Mode of inheritance for gene: COL9A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: COL9A3 were set to 10655510 Phenotypes for gene: COL9A3 were set to Epiphyseal dysplasia, multiple, 3, with or without myopathy MIM#600969 Review for gene: COL9A3 was set to AMBER gene: COL9A3 was marked as current diagnostic