COL5A2

collagen type V alpha 2 chain
OMIM: 120190, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Red COL5A2 in ClinGen_Familial thoracic aortic aneurysm and aortic dissection Version 0.11	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources ClinGen Expert Review Red Phenotypes Familial thoracic aortic aneurysm and aortic dissection
Red COL5A2 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
Green COL5A2 in Inherited bleeding disorders Level 3: Haemostasis disorders Level 2: Haematological and immunological disorders Version 1.178	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green BRIDGE Study Tier 1 Gene Phenotypes Bleeding disorder Ehlers-Danlos syndrome, classic type
Green COL5A2 in Thoracic aortic aneurysm or dissection (GMS) Version 3.11 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green South West GLH London South GLH South West GLH London South GLH Phenotypes Ehlers-Danlos syndrome, classic type, 130000 multisystemic smooth muscle dysfunction syndrome
Green COL5A2 in Thoracic aortic aneurysm or dissection Level 3: Connective tissue disorders and aortopathies Level 2: Cardiovascular disorders Version 1.127	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH London South GLH Expert Review Green Expert list Emory Genetics Laboratory Phenotypes multisystemic smooth muscle dysfunction syndrome Ehlers-Danlos syndrome, classic type, 130000
Amber COL5A2 in Bleeding and platelet disorders Version 3.10 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber NHS GMS Wessex and West Midlands GLH Phenotypes 130010 Ehlers-Danlos syndrome, classic type, 2
Green COL5A2 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	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Eligibility statement prior genetic testing Expert Review Green Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services UKGTN Emory Genetics Laboratory Expert list Phenotypes Ehlers-Danlos syndrome, classic type, 2, OMIM:130010
Red COL5A2 in Fetal anomalies Version 3.164 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red PAGE Additional Gene List Phenotypes Ehlers-Danlos syndrome, classic type 130000
Green COL5A2 in Severe Paediatric Disorders Version 1.184	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Ehlers-Danlos syndrome, classic type, 2, 130010