GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: COL1A1
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
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