COL3A1

collagen type III alpha 1 chain
OMIM: 120180
PanelMode of inheritanceDetails
6 panels
R-numbers: R90
Signed-off version 3.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Ehlers-Danlos syndrome, vascular type, 130050
R-numbers: R336
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Ehlers-Danlos syndrome, vascular type, OMIM:130050
R-numbers: R101
Signed-off version 3.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Ehlers-Danlos syndrome, vascular type, OMIM:130050
R-numbers: R21, R412
Signed-off version 4.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
HP:0002126, HP:0001883, HP:0006496
R-numbers: R190
Signed-off version 3.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Ehlers-Danlos syndrome, vascular type, OMIM:130050
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)