COL3A1

collagen type III alpha 1 chain
OMIM: 120180, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green COL3A1 in Cerebral vascular malformations Level 2: Neurology Version 4.10 Latest signed off version: v4.0 (30 Apr 2025)	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 1.18	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green UKGTN Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Literature Phenotypes stroke ischemic stroke haemorrhagic stroke dissection vertebral artery dissection Ehlers-Danlos syndrome, type IV 130050
Green COL3A1 in Pneumothorax - familial Level 2: Respiratory Version 3.6 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 Level 2: Dermatology Version 4.16 Latest signed off version: v4.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red
Green COL3A1 in Malformations of cortical development Level 2: Neurology Version 7.30 Latest signed off version: v7.0 (30 Oct 2024) Component of the following Super Panels: Cerebral malformation	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS 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) Level 2: Cardiology Version 4.5 Latest signed off version: v4.0 (30 Apr 2025)	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, vascular type, OMIM:130050 Polymicrogyria with or without vascular-type EDS, OMIM:618343
Green COL3A1 in Thoracic aortic aneurysm or dissection Level 3: Connective tissue disorders and aortopathies Level 2: Cardiovascular disorders Version 1.129	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 Ehlers-Danlos syndrome, vascular type, OMIM:130050 Polymicrogyria with or without vascular-type EDS, OMIM:618343
Green COL3A1 in Bleeding and platelet disorders Level 2: Haematology Version 4.6 Latest signed off version: v4.0 (30 Apr 2025)	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, OMIM:130050 Polymicrogyria with or without vascular-type EDS, OMIM:618343
Green COL3A1 in Ehlers Danlos syndrome with a likely monogenic cause Level 2: Musculoskeletal Version 4.6 Latest signed off version: v4.0 (30 Apr 2025)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Expert list UKGTN Expert Review Green Phenotypes Ehlers-Danlos syndrome, vascular type, OMIM:130050 Polymicrogyria with or without vascular-type EDS, OMIM:618343
Green COL3A1 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Ehlers-Danlos syndrome, vascular type, OMIM:130050 Polymicrogyria with or without vascular-type EDS, OMIM:618343