Fetal hydrops
Gene: COL2A1
COL2A1 (collagen type II alpha 1 chain)
EnsemblGeneIds (GRCh38): ENSG00000139219
EnsemblGeneIds (GRCh37): ENSG00000139219
OMIM: 120140, Gene2Phenotype
COL2A1 is in 19 panels
EnsemblGeneIds (GRCh38): ENSG00000139219
EnsemblGeneIds (GRCh37): ENSG00000139219
OMIM: 120140, Gene2Phenotype
COL2A1 is in 19 panels
1 review
Zornitza Stark (Australian Genomics)
Hydrops is a presenting feature of this skeletal dysplasia.
Sources: Expert listCreated: 30 Dec 2019, 5:10 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Achondrogenesis, type II or hypochondrogenesis, MIM#200610
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Phenotypes
-
- Achondrogenesis, type II or hypochondrogenesis, MIM#200610
- OMIM
- 120140
- Clinvar variants
- Variants in COL2A1
- Penetrance
- None
- Panels with this gene
-
- Thoracic aortic aneurysm or dissection (GMS)
- Limb disorders
- DDG2P
- Intellectual disability
- Stickler syndrome
- Osteogenesis imperfecta
- Fetal hydrops
- Clefting
- Bilateral congenital or childhood onset cataracts
- Retinal disorders
- Multiple Epiphyseal Dysplasia
- Thoracic aortic aneurysm or dissection
- Structural eye disease
- Monogenic hearing loss
- Inherited bleeding disorders
- Ehlers Danlos syndrome with a likely monogenic cause
- Fetal anomalies
- Glaucoma (developmental)
- Skeletal dysplasia
History Filter Activity
30 Dec 2019, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Australian Genomics)gene: COL2A1 was added gene: COL2A1 was added to Fetal hydrops. Sources: Expert list Mode of inheritance for gene: COL2A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: COL2A1 were set to Achondrogenesis, type II or hypochondrogenesis, MIM#200610 Review for gene: COL2A1 was set to GREEN gene: COL2A1 was marked as current diagnostic