COL1A2

collagen type I alpha 2 chain
OMIM: 120160, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Red COL1A2 in ClinGen_Familial thoracic aortic aneurysm and aortic dissection Version 0.11	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red ClinGen Phenotypes Familial thoracic aortic aneurysm and aortic dissection
Red COL1A2 in Rare genetic inflammatory skin disorders Version 3.19 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red
Red COL1A2 in Thoracic aortic aneurysm or dissection (GMS) Version 3.11 Latest signed off version: v3.0 (22 Mar 2023)	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 1.127	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 3: Skeletal dysplasias Level 2: Skeletal disorders Version 5.3 Latest signed off version: v5.0 (1 May 2024) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Green Eligibility statement prior genetic testing Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Emory Genetics Laboratory 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 3: Connective tissues disorders Level 2: Rheumatological disorders Version 3.12 Latest signed off version: v3.0 (22 Mar 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert list Illumina TruGenome Clinical Sequencing Services Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory 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 Version 4.1 Latest signed off version: v4.0 (1 May 2024)	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 3: Skeletal dysplasias Level 2: Skeletal disorders Version 4.5 Latest signed off version: v4.0 (22 Mar 2023)	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 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 6.13 Latest signed off version: v6.0 (1 May 2024) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	Not set	Sources Victorian Clinical Genetics Services
Green COL1A2 in Severe Paediatric Disorders Version 1.184	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Osteogenesis imperfecta, type III, 259420 Ehlers-Danlos syndrome, cardiac valvular type, 225320 Osteogenesis imperfecta, type II, 166210 Ehlers-Danlos syndrome, arthrochalasia type, 2, 617821 Osteogenesis imperfecta, type IV, 166220