Multiple epiphyseal dysplasia and pseudoachondroplasia
Gene: COL9A3
COL9A3 (collagen type IX alpha 3 chain)
EnsemblGeneIds (GRCh38): ENSG00000092758
EnsemblGeneIds (GRCh37): ENSG00000092758
OMIM: 120270, Gene2Phenotype
COL9A3 is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000092758
EnsemblGeneIds (GRCh37): ENSG00000092758
OMIM: 120270, Gene2Phenotype
COL9A3 is in 13 panels
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Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Multiple Epiphyseal Dysplasia, Dominant
- Mutiple Epiphyseal Dysplasia
- Stickler syndrome type VI
- multiple epiphyseal dysplasia 3, with or without myopathy - 600969
- MED
- multiple epiphyseal dysplasia
- Epiphyseal dysplasia, multiple, with myopathy
- OMIM
- 120270
- Clinvar variants
- Variants in COL9A3
- Penetrance
- None
- 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
2 Apr 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Tiong Tan (Victorian Clinical Genetics Services)gene: COL9A3 was added gene: COL9A3 was added to Multiple epiphyseal dysplasia and pseudoachondroplasia. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: COL9A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: COL9A3 were set to Multiple Epiphyseal Dysplasia, Dominant; Mutiple Epiphyseal Dysplasia; Stickler syndrome type VI; multiple epiphyseal dysplasia 3, with or without myopathy - 600969; MED; multiple epiphyseal dysplasia; Epiphyseal dysplasia, multiple, with myopathy