COL1A2

collagen type I alpha 2 chain
OMIM: 120160, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green COL1A2 in Skeletal Dysplasia_Fetal Level 2: Skeletal disorders Version 0.223	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Genetic Health Queensland Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Perinatal Autopsy Flagship Phenotypes Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2, MIM# 619120 Ehlers-Danlos syndrome, arthrochalasia type, 2, MIM# 617821 Ehlers-Danlos syndrome, cardiac valvular type, MIM# 225320 Osteogenesis imperfecta, type II, MIM# 166210 Osteogenesis imperfecta, type III, MIM# 259420 Osteogenesis imperfecta, type IV, MIM# 166220
Green COL1A2 in Aortopathy_Connective Tissue Disorders Level 2: Cardiovascular disorders Version 1.85	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Ehlers-Danlos syndrome, arthrochalasia type, 2 MIM#617821 Ehlers-Danlos syndrome, cardiac valvular type MIM#225320
Green COL1A2 in Mendeliome Version 1.1891	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2, MIM# 619120 Ehlers-Danlos syndrome, arthrochalasia type, 2, MIM# 617821 Ehlers-Danlos syndrome, cardiac valvular type, MIM# 225320 Osteogenesis imperfecta, type II, MIM# 166210 Osteogenesis imperfecta, type III, MIM# 259420 Osteogenesis imperfecta, type IV, MIM# 166220
Green COL1A2 in Osteogenesis Imperfecta and Osteoporosis Level 2: Skeletal disorders Version 0.114	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Red COL1A2 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Ehlers-Danlos syndrome, arthrochalasia type, 2, MIM# 617821 Ehlers-Danlos syndrome, cardiac valvular type, MIM# 225320 Osteogenesis imperfecta, type II, MIM# 166210 Osteogenesis imperfecta, type III, MIM# 259420 Osteogenesis imperfecta, type IV, MIM# 166220
Green COL1A2 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.285	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	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 Osteogenesis imperfecta, type III 259420 Osteogenesis imperfecta, type IV 166220 Ehlers-Danlos syndrome, type VIIB 130060 Ehlers-Danlos syndrome, cardiac valvular form 225320 Osteogenesis imperfecta, type II 166210
Green COL1A2 in Ehlers Danlos syndromes Level 2: Cardiovascular disorders Version 1.3	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list International EDS Consortium Expert Review Green Phenotypes Ehlers Danlos syndrome, cardiac valvular form (AR), 225320 Arthrochalasia EDS Cardiac-valvular EDS Ehlers Danlos syndrome, type VIIB (AD), 130060
Green COL1A2 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Osteogenesis imperfecta, type II
Green COL1A2 in Fetal anomalies Version 1.255	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Genetic Health Queensland Phenotypes Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2, MIM# 619120 Ehlers-Danlos syndrome, arthrochalasia type, 2, MIM# 617821 Ehlers-Danlos syndrome, cardiac valvular type, MIM# 225320 Osteogenesis imperfecta, type II, MIM# 166210 Osteogenesis imperfecta, type III, MIM# 259420 Osteogenesis imperfecta, type IV, MIM# 166220
Green COL1A2 in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green BabySeq Category A gene Phenotypes Osteogenesis imperfecta, type II , MIM#166210 Tags treatable skeletal
Green COL1A2 in Transplant Co-Morbidity Superpanel Level 2: Screening Version 0.18	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2, MIM# 619120