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	1 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 0.201 Component of the following Super Panels: Malformations of cortical development_Superpanel	1 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 0.93	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green COL3A1 in Aortopathy_Connective Tissue Disorders Level 2: Cardiovascular disorders Version 1.100	1 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 1.62	1 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 0.360	2 reviews	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 1.267 Component of the following Super Panels: Progressive Neurological Conditions	1 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 1.130	1 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 1.28	1 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 1.9 Component of the following Super Panels: Progressive Neurological Conditions	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Genomics England PanelApp Expert Review Green Phenotypes Ehlers-Danlos syndrome, type IV 130050
Green COL3A1 in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	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	1 review	Unknown	Sources NSW Health Pathology Expert Review Green
Green COL3A1 in Fetal anomalies Version 1.465	1 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 Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.140	1 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 1.1	1 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 Level 2: Screening Version 0.20	0 reviews	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 Spontaneous coronary artery dissection Level 2: Cardiovascular disorders Version 0.56	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Ehlers-Danlos syndrome, vascular type MIM#130050