COL3A1

collagen type III alpha 1 chain
OMIM: 120180, Gene2Phenotype

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Green COL3A1 in ClinGen_Familial thoracic aortic aneurysm and aortic dissection Version 0.11	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green ClinGen Other Phenotypes Familial thoracic aortic aneurysm and aortic dissection
Green COL3A1 in Cerebral vascular malformations Level 3: Cerebrovascular disorders Level 2: Neurology and neurodevelopmental disorders Version 3.16 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Yorkshire and North East GLH NHS GMS Expert Review Green UKGTN Phenotypes Ehlers-Danlos syndrome, vascular type, OMIM:130050
Green COL3A1 in Familial cerebral small vessel disease Level 3: Arteriopathies Level 2: Cardiovascular disorders Version 1.17	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green UKGTN Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Literature Phenotypes stroke ischemic stroke haemorrhagic stroke dissection vertebral artery dissection Ehlers-Danlos syndrome, type IV 130050
Green COL3A1 in Pneumothorax - familial Level 3: Structural lung disorders Level 2: Respiratory disorders Version 3.5 Latest signed off version: v3.0 (22 Mar 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert list Phenotypes Ehlers-Danlos syndrome, vascular type, OMIM:130050
Red COL3A1 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
Red COL3A1 in Malformations of cortical development Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 4.26 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Cerebral malformation	review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Polymicrogyria with or without vascular-type EDS, OMIM:618343 polymicrogyria with or without vascular-type Ehlers-Danlos syndrome, MONDO:0032688
Green COL3A1 in Thoracic aortic aneurysm or dissection (GMS) Version 3.11 Latest signed off version: v3.0 (22 Mar 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources North West GLH South West GLH London South GLH Expert Review Green South West GLH London South GLH North West GLH Phenotypes Ehlers-Danlos syndrome, type IV, 130050 Loeys-Dietz syndrome Ehlers-Danlos syndrome, vascular type (130050)
Green COL3A1 in Thoracic aortic aneurysm or dissection Level 3: Connective tissue disorders and aortopathies Level 2: Cardiovascular disorders Version 1.127	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources South West GLH London South GLH North West GLH Expert Review Green Expert list UKGTN Emory Genetics Laboratory Phenotypes Loeys-Dietz syndrome Ehlers-Danlos syndrome, type IV, 130050 Ehlers-Danlos syndrome, vascular type (130050)
Green COL3A1 in Bleeding and platelet disorders Version 3.10 Latest signed off version: v3.0 (22 Mar 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Wessex and West Midlands GLH Phenotypes Ehlers-Danlos syndrome, vascular type, 130050
Green COL3A1 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	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Expert list UKGTN Expert Review Green Emory Genetics Laboratory Phenotypes Ehlers-Danlos syndrome, vascular type, OMIM:130050
Green COL3A1 in Fetal anomalies Version 3.164 Latest signed off version: v3.0 (22 Mar 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes HP:0002126 HP:0001883 HP:0006496
Green COL3A1 in Severe Paediatric Disorders Version 1.184	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Polymicrogyria with or without vascular-type EDS, 618343 Ehlers-Danlos syndrome, vascular type, 130050