Skeletal dysplasia

Gene: COL1A1

Green List (high evidence)

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 Lester

Created: 6 Mar 2019, 11:44 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

I don't know

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: COL1A1; Initial rating suggestion: Green or OI/EDS

Created: 6 Mar 2019, 11:36 a.m.

Green List (high evidence)

Listed as associated with Skeletal Dysplasia by Gene Advisor (June 2016), Steve Abbs

Created: 27 Jul 2016, 9:28 a.m.

Comment when marking as ready: Associated with phenotypes in G2P. Numerous variants reported in these phenotypes.

Created: 13 Jul 2016, 8:14 a.m.

Green List (high evidence)

Tier 1

Created: 17 Jun 2016, 8:02 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Variants in this GENE are reported as part of current diagnostic practice