COL1A1

collagen type I alpha 1 chain
OMIM: 120150, Gene2Phenotype

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Red COL1A1 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
Green COL1A1 in Inherited bleeding disorders Level 3: Haemostasis disorders Level 2: Haematological and immunological disorders Version 1.182	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green BRIDGE Study Tier 1 Gene Phenotypes Bleeding disorder Ehlers-Danlos syndrome Caffey Osteogenesis imperfecta type 1 Osteogenesis imperfecta type 2 Osteogenesis imperfecta type 3 Osteogenesis imperfecta type 4
Green COL1A1 in Thoracic aortic aneurysm or dissection (GMS) Level 2: Cardiology Version 4.5 Latest signed off version: v4.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS South West GLH London South GLH South West GLH London South GLH Phenotypes Ehlers-Danlos syndrome, arthrochalasia type, 1, OMIM:130060
Green COL1A1 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, NOT imprinted	Sources South West GLH London South GLH Expert Review Green Expert list Phenotypes Ehlers-Danlos syndrome, classic, 130000 Ehlers-Danlos syndrome, type VIIA, 130060
Green COL1A1 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 Eligibility statement prior genetic testing UKGTN Illumina TruGenome Clinical Sequencing Services Expert Radboud University Medical Center, Nijmegen 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
Amber COL1A1 in Bleeding and platelet disorders Level 2: Haematology Version 4.6 Latest signed off version: v4.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber NHS GMS Wessex and West Midlands GLH Phenotypes 114000 Caffey disease 130060 Ehlers-Danlos syndrome, arthrochalasia type, 1
Green COL1A1 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	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Ehlers-Danlos syndrome, arthrochalasia type, 1, OMIM:130060 Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1, OMIM:619115
Green COL1A1 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 PAGE DD-Gene2Phenotype Expert Review Green 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 COL1A1 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 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 COL1A1 in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green 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
Red COL1A1 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	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene 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 [Bone mineral density variation QTL], 166710
Red COL1A1 in Monogenic short stature Level 2: Endocrinology Version 1.31 Latest signed off version: v1.0 (7 Aug 2024)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Phenotypes OI Osteogenesis imperfecta, type II, 166210 Osteogenesis imperfecta, type III, 259420 Osteogenesis imperfecta, type I, 166200 Osteogenesis imperfecta, type IV, 166220