COL5A2

collagen type V alpha 2 chain
OMIM: 120190, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green COL5A2 in Aortopathy_Connective Tissue Disorders Level 2: Cardiovascular disorders Version 1.85	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Ehlers-Danlos syndrome, classic type, 2, MIM#130010
Amber COL5A2 in Bleeding and Platelet Disorders Level 2: Haematological disorders Version 1.43	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Ehlers-Danlos syndrome, classic type, 2, MIM# 130010
Green COL5A2 in Mendeliome Version 1.1891	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ehlers-Danlos syndrome, classic type, 2 MIM#130010
Green COL5A2 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 Literature Phenotypes Ehlers-Danlos syndrome, classic type, 130000 Classical EDS
Green COL5A2 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
Red COL5A2 in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red BabySeq Category A gene Phenotypes Ehlers-Danlos syndrome, classic type, 2 MIM#130010