COL3A1

collagen type III alpha 1 chain
OMIM: 120180, Gene2Phenotype

17 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 17 panels
Green COL3A1 in Cobblestone Malformations Level 2: Neurology and neurodevelopmental disorders Version 1.1 Component of the following Super Panels: Malformations of cortical development_Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Brain Malformations Flagship Phenotypes Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome, MIM # 618343
Green COL3A1 in Polymicrogyria and Schizencephaly Level 2: Neurology and neurodevelopmental disorders Version 0.189 Component of the following Super Panels: Malformations of cortical development_Superpanel	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Polymicrogyria with or without vascular-type ehlers-danlos syndrome, MIM # 618343 Ehlers-Danlos syndrome, vascular type, MIM# 130050
Green COL3A1 in Vasculitis Level 2: Immunological disorders Version 0.82	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green COL3A1 in Aortopathy_Connective Tissue Disorders Level 2: Cardiovascular disorders Version 1.85	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ehlers-Danlos syndrome, vascular type, MIM# 130050 Polymicrogyria with or without vascular-type EDS, MIM# 618343
Green COL3A1 in Bleeding and Platelet Disorders Level 2: Haematological disorders Version 1.43	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ehlers-Danlos syndrome, vascular type, MIM# 130050
Green COL3A1 in Incidentalome Version 0.301	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ehlers-Danlos syndrome, vascular type, MIM# 130050 Polymicrogyria with or without vascular-type EDS, MIM# 618343 Tags cardiac
Green COL3A1 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.33 Component of the following Super Panels: Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Polymicrogyria with or without vascular-type ehlers-danlos syndrome, MIM # 618343
Green COL3A1 in Additional findings_Adult Level 2: Screening Version 0.166	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Phenotypes Ehlers-Danlos syndrome, vascular type, MIM# 130050
Green COL3A1 in Stroke Level 2: Neurology and neurodevelopmental disorders Version 1.16	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Ehlers-Danlos syndrome, vascular type MIM#130050
Green COL3A1 in Cerebral vascular malformations Level 2: Neurology and neurodevelopmental disorders Version 0.39 Component of the following Super Panels: Progressive Neurological Conditions	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Genomics England PanelApp Expert Review Green Phenotypes Ehlers-Danlos syndrome, type IV 130050
Green COL3A1 in Ehlers Danlos syndromes Level 2: Cardiovascular disorders Version 1.3	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources International EDS Consortium Expert Review Green Phenotypes Vascular EDS Ehlers Danlos syndrome, type IV, 130050
Green COL3A1 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 Ehlers-Danlos syndrome, type IV
Green COL3A1 in Incidentalome_PREGEN_DRAFT Version 0.43	review	Unknown	Sources NSW Health Pathology Expert Review Green
Green COL3A1 in Fetal anomalies Version 1.255	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Polymicrogyria with or without vascular-type ehlers-danlos syndrome, MIM # 618343 Ehlers-Danlos syndrome, vascular type, MIM# 130050
Amber COL3A1 in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber BabySeq Category A gene Phenotypes Ehlers-Danlos syndrome, vascular type, MIM# 130050 Tags cardiac
Green COL3A1 in Pneumothorax Level 3: Structural lung disorders Level 2: Respiratory disorders Version 0.11	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Green Expert list Phenotypes Ehlers-Danlos syndrome, vascular type, OMIM:130050
Green COL3A1 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 Ehlers-Danlos syndrome, vascular type, MIM# 130050