COL3A1

collagen type III alpha 1 chain
OMIM: 120180
PanelMode of inheritanceDetails
5 panels
R-numbers: R336
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Ehlers-Danlos syndrome, type IV 130050
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
R-numbers: R21
Signed-off version 1.92
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
HP:0002126, HP:0001883, HP:0006496
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
R-numbers: R125
Signed-off version 1.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Ehlers-Danlos syndrome, type IV, 130050, Loeys-Dietz syndrome, Ehlers-Danlos syndrome, vascular type (130050)