Genomics England

COL3A1

collagen type III alpha 1 chain

OMIM: 120180

Panel	Mode of inheritance	Details
Filter panels7 panels
Green in Bleeding and platelet disorders R-numbers: R90 Signed-off version 3.0	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Ehlers-Danlos syndrome, vascular type, 130050
Green in Cerebral vascular malformations R-numbers: R336 Signed-off version 3.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Ehlers-Danlos syndrome, vascular type, OMIM:130050
Green in Ehlers Danlos syndrome with a likely monogenic cause R-numbers: R101 Signed-off version 3.0	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Ehlers-Danlos syndrome, vascular type, OMIM:130050
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 5.0	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes HP:0002126, HP:0001883, HP:0006496
Green in Malformations of cortical development Component of the following Super Panels: - Cerebral malformation Signed-off version 7.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Polymicrogyria with or without vascular-type EDS, OMIM:618343, polymicrogyria with or without vascular-type Ehlers-Danlos syndrome, MONDO:0032688
Green in Pneumothorax - familial R-numbers: R190 Signed-off version 3.0	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Ehlers-Danlos syndrome, vascular type, OMIM:130050
Green in Thoracic aortic aneurysm or dissection (GMS) R-numbers: R125 Signed-off version 3.0	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Ehlers-Danlos syndrome, type IV, 130050, Loeys-Dietz syndrome, Ehlers-Danlos syndrome, vascular type (130050)