GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: COL1A1EnsemblGeneIds (GRCh38): ENSG00000108821
EnsemblGeneIds (GRCh37): ENSG00000108821
OMIM: 120150, Gene2Phenotype
COL1A1 is in 12 panels
1 review
Tracy Lester (Genetics laboratory, Oxford UK)
neonatal osteosclerotic dysplasias gp of SD, OI and decreasing bone density gp of SD. Many missense/splice variants reported in OI, primarily affecting Gly residues, type 1 primarily haploinsufficiency. EDS - missense variants in first 90 residues of helix. Caffey - R836C in all cases. Green for all phenotypes.; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:52 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Caffey disease 114000; Ehlers-Danlos syndrome, classic 130000; Ehlers-Danlos syndrome, type VIIA 130060; Osteogenesis imperfecta, type I 166200; Osteogenesis imperfecta, type II 166210; Osteogenesis imperfecta, type III 259420; Osteogenesis imperfecta, type IV 166220
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Osteogenesis imperfecta, type I 166200
- Caffey disease 114000
- Osteogenesis imperfecta, type III 259420
- Osteogenesis imperfecta, type II 166210
- Ehlers-Danlos syndrome, type VIIA 130060
- Ehlers-Danlos syndrome, classic 130000
- Osteogenesis imperfecta, type IV 166220
- OMIM
- 120150
- Clinvar variants
- Variants in COL1A1
- Penetrance
- None
- Panels with this gene
-
- Thoracic aortic aneurysm or dissection (GMS)
- Osteogenesis imperfecta
- Intellectual disability
- Bleeding and platelet disorders
- Thoracic aortic aneurysm or dissection
- Inherited bleeding disorders
- Fetal anomalies
- DDG2P
- Skeletal dysplasia
- Monogenic short stature
- Ehlers Danlos syndrome with a likely monogenic cause
- Rare genetic inflammatory skin disorders
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: COL1A1 was added gene: COL1A1 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: COL1A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: COL1A1 were set to Osteogenesis imperfecta, type I 166200; Caffey disease 114000; Osteogenesis imperfecta, type III 259420; Osteogenesis imperfecta, type II 166210; Ehlers-Danlos syndrome, type VIIA 130060; Ehlers-Danlos syndrome, classic 130000; Osteogenesis imperfecta, type IV 166220