COL1A2

collagen type I alpha 2 chain
OMIM: 120160, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Red COL1A2 in Rare genetic inflammatory skin disorders Level 2: Dermatology Version 4.16 Latest signed off version: v4.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red
Red COL1A2 in Thoracic aortic aneurysm or dissection (GMS) Level 2: Cardiology Version 4.5 Latest signed off version: v4.0 (30 Apr 2025)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red South West GLH London South GLH South West GLH London South GLH Phenotypes Ehlers-Danlos syndrome, cardiac valvular form Ehlers-Danlos syndrome, type VIIB
Green COL1A2 in Thoracic aortic aneurysm or dissection Level 3: Connective tissue disorders and aortopathies Level 2: Cardiovascular disorders Version 1.129	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources South West GLH London South GLH Expert Review Green Expert list Phenotypes Ehlers-Danlos syndrome, cardiac valvular form Ehlers-Danlos syndrome, type VIIB
Green COL1A2 in Skeletal dysplasia Level 2: Musculoskeletal Version 8.34 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Green Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Eligibility statement prior genetic testing UKGTN Expert Phenotypes Ehlers-Danlos syndrome, cardiac valvular form, OMIM:225320 Ehlers-Danlos syndrome, type VIIB, OMIM:130060 Osteogenesis imperfecta, type II, OMIM:166210 Osteogenesis imperfecta, type III, OMIM:259420 Osteogenesis imperfecta, type IV, OMIM:166220
Green COL1A2 in Ehlers Danlos syndrome with a likely monogenic cause Level 2: Musculoskeletal Version 4.6 Latest signed off version: v4.0 (30 Apr 2025)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Expert list Phenotypes Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2, OMIM:619120 Ehlers-Danlos syndrome, arthrochalasia type, 2, OMIM:617821 Ehlers-Danlos syndrome, cardiac valvular type, OMIM:225320
Green COL1A2 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS PAGE Additional Gene List Expert Review Green Phenotypes Ehlers-Danlos syndrome Osteogenesis imperfecta
Green COL1A2 in Osteogenesis imperfecta Level 2: Musculoskeletal Version 5.4 Latest signed off version: v5.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Green Eligibility statement prior genetic testing UKGTN Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Expert 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
Red COL1A2 in Intellectual disability Level 2: Developmental disorders Version 9.285 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	Not set	Sources Victorian Clinical Genetics Services