Genomics England

procollagen-lysine,2-oxoglutarate 5-dioxygenase 1

Panel	Mode of inheritance	Details
Filter panels5 panels
Green in Arthrogryposis R-numbers: R83 Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Ehlers-Danlos syndrome, type VI 225400
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 3.1	BIALLELIC, autosomal or pseudoautosomal	Phenotypes EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC FORM 225400
Green in Ehlers Danlos syndrome with a likely monogenic cause R-numbers: R101 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Ehlers-Danlos syndrome, kyphoscoliotic type, 1, OMIM:225400
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC FORM
Green in Thoracic aortic aneurysm or dissection (GMS) R-numbers: R125 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes kyphoscoliotic EDS, Ehlers-Danlos syndrome, type VI, 225400