Genomics England

COL1A1

collagen type I alpha 1 chain

OMIM: 120150

Panel	Mode of inheritance	Details
Filter panels5 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 3.79	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
Green in Ehlers Danlos syndrome with a likely monogenic cause R-numbers: R101 Signed-off version 3.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Ehlers-Danlos syndrome, arthrochalasia type, 1, OMIM:130060, Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1, OMIM:619115
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 3.122	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
Green in Osteogenesis imperfecta R-numbers: R102 Signed-off version 4.0	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
Green in Skeletal dysplasia Component of the following Super Panels: - Paediatric disorders R-numbers: R104 Signed-off version 4.31	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