Skeletal Dysplasia_Fetal
Gene: COL1A1

COL1A1 (collagen type I alpha 1 chain)
EnsemblGeneIds (GRCh38): ENSG00000108821
EnsemblGeneIds (GRCh37): ENSG00000108821
OMIM: 120150, Gene2Phenotype
COL1A1 is in 9 panels

1 review

Chern Lim (Victorian Clinical Genetics Services)

Green List (high evidence)

The mild forms are usually caused by haploinsufficiency and result in a reduced amount of normal type I collagen, the severe and lethal forms result from dominant negative variants which produce structural defects in the collagen molecule (PMID:12362985).
Created: 10 Feb 2020, 6:03 a.m. | Last Modified: 10 Feb 2020, 6:03 a.m.

Panel Version: 0.14

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Caffey disease, MIM#114000; Ehlers-Danlos syndrome, arthrochalasia type, 1, MIM#130060; Osteogenesis imperfecta, type I, MIM#166200; Osteogenesis imperfecta, type II, MIM#166210; Osteogenesis imperfecta, type III, MIM#259420; Osteogenesis imperfecta, type IV, MIM#166220

Publications

PMID: 12362985
28956891

Mode of pathogenicity
Other

Created: 10 Feb 2020, 6:03 a.m.
Last Modified: 10 Feb 2020, 6:03 a.m.
Panel version: 0.14

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services
Melbourne Genomics Health Alliance Perinatal Autopsy Flagship

Phenotypes

Caffey disease, MIM#114000
Ehlers-Danlos syndrome, arthrochalasia type, 1, MIM#130060
Osteogenesis imperfecta, type I, MIM#166200
Osteogenesis imperfecta, type II, MIM#166210
Osteogenesis imperfecta, type III, MIM#259420
Osteogenesis imperfecta, type IV, MIM#166220

OMIM

120150

Clinvar variants

Variants in COL1A1

Penetrance

None

Publications

Mode of Pathogenicity

Other

Panels with this gene