Genomics England

collagen type III alpha 1 chain

Panel	Mode of inheritance	Details
Filter panels6 panels
Green in Bleeding and platelet disorders R-numbers: R90 Signed-off version 2.1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Ehlers-Danlos syndrome, vascular type, 130050
Green in Cerebral vascular malformations R-numbers: R336 Signed-off version 2.2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Ehlers-Danlos syndrome, type IV 130050
Green in Ehlers Danlos syndromes R-numbers: R101 Signed-off version 2.3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Ehlers Danlos syndrome, type IV, 130050, Vascular EDS, vEDS, Ehlers-Danlos Syndrome, Vascular Type, Sack-Barabas syndrome
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 2.1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes HP:0002126, HP:0001883, HP:0006496
Green in Pneumothorax - familial R-numbers: R190 Signed-off version 2.17	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Ehlers-Danlos Syndrome, type IV, Ehlers-Danlos syndrome, vascular type, 130050
Green in Thoracic aortic aneurysm and dissection R-numbers: R125 Signed-off version 2.1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Ehlers-Danlos syndrome, type IV, 130050, Loeys-Dietz syndrome, Ehlers-Danlos syndrome, vascular type (130050)