COL1A1

collagen type I alpha 1 chain
OMIM: 120150, Gene2Phenotype

14 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 14 panels
Red COL1A1 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 COL1A1 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
Green COL1A1 in Inherited bleeding disorders Level 3: Haemostasis disorders Level 2: Haematological and immunological disorders Version 1.178	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
Red COL1A1 in Thoracic aortic aneurysm or dissection (GMS) Version 3.11 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red South West GLH London South GLH South West GLH London South GLH Phenotypes Ehlers-Danlos syndrome, classic, 130000 Ehlers-Danlos syndrome, type VIIA, 130060
Green COL1A1 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, 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 3: Skeletal dysplasias Level 2: Skeletal disorders Version 4.63 Latest signed off version: v4.0 (22 Mar 2023) 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 Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services UKGTN 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 Version 3.10 Latest signed off version: v3.0 (22 Mar 2023)	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 3: Connective tissues disorders Level 2: Rheumatological disorders Version 3.12 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert list Expert Review Green Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Phenotypes Ehlers-Danlos syndrome, arthrochalasia type, 1, OMIM:130060 Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1, OMIM:619115
Green COL1A1 in Fetal anomalies Version 3.164 Latest signed off version: v3.0 (22 Mar 2023)	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 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 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 3.88 Latest signed off version: v3.1 (22 Mar 2023) 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 Growth failure in early childhood Version 3.94 Latest signed off version: v3.0 (22 Mar 2023)	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
Red COL1A1 in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.544 Latest signed off version: v5.0 (22 Mar 2023) 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
Green COL1A1 in Severe Paediatric Disorders Version 1.184	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Ehlers-Danlos syndrome, arthrochalasia type, 1, 130060 Osteogenesis imperfecta, type I, 166200 Osteogenesis imperfecta, type III, 259420 Caffey disease, 114000 Osteogenesis imperfecta, type II, 166210 Osteogenesis imperfecta, type IV, 166220