COL1A1

collagen type I alpha 1 chain
OMIM: 120150
PanelMode of inheritanceDetails
5 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
CAFFEY DISEASE 114000, OSTEOGENESIS IMPERFECTA TYPE IIA 166210, OSTEOGENESIS IMPERFECTA TYPE III 259420, COL1A1/2-RELATED OSTEOGENESIS IMPERFECTA 166210, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, COL1A1-RELATED 130060, OSTEOGENESIS IMPERFECTA TYPE I 166200, EHLERS-DANLOS SYNDROME TYPE VIIA 319158
R-numbers: R101
Signed-off version 2.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Ehlers-Danlos syndrome, classic type, 130000, Classical EDS (rare), cEDS, Ehlers-Danlos syndrome, type VIIA, 130060, Arthrochalasia EDS, aEDS, Vascular EDS (rare), vEDS
R-numbers: R21
Signed-off version 1.92
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
COL1A1/2-RELATED OSTEOGENESIS IMPERFECTA, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, COL1A1-RELATED, OSTEOGENESIS IMPERFECTA TYPE III, EHLERS-DANLOS SYNDROME TYPE VIIA, OSTEOGENESIS IMPERFECTA TYPE IIA, CAFFEY DISEASE, OSTEOGENESIS IMPERFECTA TYPE I
R-numbers: R102
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Osteogenesis imperfecta, type I, 166200, OI type II, 166210, OI type III, 259420, OI type IV, 166220, Ehlers-Danlos syndrome, type I, 130000, Ehlers-Danlos syndrome, type VIIA, 130060, {Osteoporosis}, 166710, Caffey disease, 114000, Osteogenesis Imperfecta, Dominant, Osteogenesis Imperfecta and Decreased Bone Density, skeletal dysplasias, Osteogenesis Imperfecta, Type IV, Osteogenesis Imperfecta, Type II, Osteogenesis Imperfecta, Type III, Disproportionate Short Stature
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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