Skeletal Dysplasia_Fetal
Gene: COL2A1EnsemblGeneIds (GRCh38): ENSG00000139219
EnsemblGeneIds (GRCh37): ENSG00000139219
OMIM: 120140, Gene2Phenotype
COL2A1 is in 18 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Well established gene-disease association, spectrum of severity of clinical presentations, with the more severe phenotypes such as achondrogenesis presenting antenatally.Created: 19 Nov 2021, 2:49 a.m. | Last Modified: 19 Nov 2021, 2:49 a.m.
Panel Version: 0.572
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Collagenopathy type 2 alpha 1, MONDO:0022800
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Genomics England PanelApp
- Victorian Clinical Genetics Services
- Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
- Phenotypes
-
- Collagenopathy type 2 alpha 1, MONDO:0022800
- OMIM
- 120140
- Clinvar variants
- Variants in COL2A1
- Penetrance
- None
- Panels with this gene
-
- Deafness_IsolatedAndComplex
- Mackenzie's Mission_Reproductive Carrier Screening
- Clefting disorders
- Prepair 1000+
- BabyScreen+ newborn screening
- Hydrops fetalis
- Stickler Syndrome
- Pierre Robin Sequence
- Deafness_Isolated
- Short Long Bones with Advanced Carpal Bone Age
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Skeletal Dysplasia_Fetal
- Mendeliome
- Cataract
- Aortopathy_Connective Tissue Disorders
- Syndromic Retinopathy
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: col2a1 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: COL2A1 were changed from to Collagenopathy type 2 alpha 1, MONDO:0022800
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: COL2A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: COL2A1 was added gene: COL2A1 was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: COL2A1 was set to Unknown