COL1A1

collagen type I alpha 1 chain
OMIM: 120150, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green COL1A1 in Skeletal Dysplasia_Fetal Level 2: Skeletal disorders Version 0.230	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Perinatal Autopsy Flagship Phenotypes Caffey disease, MIM#114000 Ehlers-Danlos syndrome, arthrochalasia type, 1, MIM#130060 Osteogenesis imperfecta, type I, MIM#166200 Osteogenesis imperfecta, type II, MIM#166210 Osteogenesis imperfecta, type III, MIM#259420 Osteogenesis imperfecta, type IV, MIM#166220
Green COL1A1 in Aortopathy_Connective Tissue Disorders Level 2: Cardiovascular disorders Version 1.87	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ehlers-Danlos syndrome, arthrochalasia type, 1, MIM# 130060
Green COL1A1 in Mendeliome Version 1.2374	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Caffey disease MIM#114000 Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 MIM#619115 Ehlers-Danlos syndrome, arthrochalasia type, 1 MIM#130060 Osteogenesis imperfecta, type I MIM#166200 Osteogenesis imperfecta, type II MIM#166210 Osteogenesis imperfecta, type III MIM#259420 Osteogenesis imperfecta, type IV MIM#166220
Green COL1A1 in Osteogenesis Imperfecta and Osteoporosis Level 2: Skeletal disorders Version 1.0	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 MONDO:0030854 Osteogenesis imperfecta type 1 MONDO:0008146 Osteogenesis imperfecta type 2 MONDO:0008147 Osteogenesis imperfecta type 3 MONDO:0009804 Osteogenesis imperfecta type 4 MONDO:0008148
Green COL1A1 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.305	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Expert UKGTN Eligibility statement prior genetic testing Radboud University Medical Center, Nijmegen Expert Review Green NHS GMS Emory Genetics Laboratory Phenotypes Ehlers-Danlos syndrome, type VIIA 130060 Osteogenesis imperfecta, type III 259420 Osteogenesis imperfecta, type I 166200 Osteogenesis imperfecta, type IV 166220 Ehlers-Danlos syndrome, classic 130000 Caffey disease 114000 Osteogenesis imperfecta, type II 166210
Green COL1A1 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green BabySeq Category C gene BabySeq Category A gene Phenotypes Osteogenesis imperfecta, type I
Green COL1A1 in Fetal anomalies Version 1.314	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Genomics England PanelApp Phenotypes Caffey disease, MIM#114000 Ehlers-Danlos syndrome, arthrochalasia type, 1, MIM#130060 Osteogenesis imperfecta, type I, MIM#166200 Osteogenesis imperfecta, type II, MIM#166210 Osteogenesis imperfecta, type III, MIM#259420 Osteogenesis imperfecta, type IV, MIM#166220
Green COL1A1 in BabyScreen+ newborn screening Level 2: Screening Version 1.116	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green BabySeq Category C gene BabySeq Category A gene Phenotypes Osteogenesis imperfecta, type I, MIM#166200 Tags treatable skeletal
Green COL1A1 in Transplant Co-Morbidity Superpanel Level 2: Screening Version 0.18	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Osteogenesis imperfecta