Genomics England
GMS Panels
Panels
Genes and Entities

COL1A2

collagen type I alpha 2 chain
OMIM: 120160
PanelMode of inheritanceDetails
4 panels
Green
in Ehlers Danlos syndromes
R-numbers: R101
Signed-off version 2.3
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Ehlers Danlos syndrome, type VIIB (AD), 130060, Ehlers-Danlos Syndrome, Arthrochalasia Type, Arthrochalasia EDS, aEDS, Ehlers Danlos syndrome, cardiac valvular form (AR), 225320, Cardiac-valvular EDS, cvEDS
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 2.4
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Ehlers-Danlos syndrome, Osteogenesis imperfecta
Green
in Osteogenesis imperfecta
R-numbers: R102
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Ehlers-Danlos syndrome, type VIIB, 130060, Osteogenesis imperfecta, type IV, 166220, Osteogenesis imperfecta, type III, 259420, Osteogenesis imperfecta, type II, 166210, {Osteoporosis, postmenopausal}, 166710, Ehlers-Danlos syndrome, cardi, Osteogenesis Imperfecta, Dominant, Osteogenesis Imperfecta and Decreased Bone Density, skeletal dysplasias, Osteogenesis Imperfecta, Type IV, Osteogenesis Imperfecta, Type II, Osteogenesis Imperfecta, Type III
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 3.1
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Ehlers-Danlos syndrome, cardiac valvular form 225320, Ehlers-Danlos syndrome, type VIIB 130060, Osteogenesis imperfecta, type II 166210, Osteogenesis imperfecta, type III 259420, Osteogenesis imperfecta, type IV 166220