Multiple epiphyseal dysplasia and pseudoachondroplasia
Gene: COL9A2
COL9A2 (collagen type IX alpha 2 chain)
EnsemblGeneIds (GRCh38): ENSG00000049089
EnsemblGeneIds (GRCh37): ENSG00000049089
OMIM: 120260, Gene2Phenotype
COL9A2 is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000049089
EnsemblGeneIds (GRCh37): ENSG00000049089
OMIM: 120260, Gene2Phenotype
COL9A2 is in 13 panels
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Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Epiphyseal dysplasia, multiple, 2 600204
- Stickler syndrome, type V, 614284
- Stickler syndrome, type V 614284
- {Intervertebral disc disease, susceptibility to}, 603932
- OMIM
- 120260
- Clinvar variants
- Variants in COL9A2
- Penetrance
- None
- Panels with this gene
-
- BabyScreen+ newborn screening
- Cataract
- 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: COL9A2 was added gene: COL9A2 was added to Multiple epiphyseal dysplasia and pseudoachondroplasia. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: COL9A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: COL9A2 were set to Epiphyseal dysplasia, multiple, 2 600204; Stickler syndrome, type V, 614284; Stickler syndrome, type V 614284; {Intervertebral disc disease, susceptibility to}, 603932