Genomics England

DST

dystonin

Panel	Mode of inheritance	Details
Filter panels5 panels
Green in Arthrogryposis R-numbers: R83 Signed-off version 10.16	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Congenital myopathy 29 with contractures, OMIM:621510, congenital myopathy 29 with contractures, MONDO:0981030, Lethal congenital contracture syndrome 12, OMIM:621511, lethal congenital contracture syndrome 12, MONDO:0981031
Green in Epidermolysis bullosa and congenital skin fragility R-numbers: R164 Signed-off version 2.16	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Epidermolysis bullosa simplex, autosomal recessive 2, OMIM:615425
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Congenital myopathy 29 with contractures, OMIM:621510, congenital myopathy 29 with contractures, MONDO:0981030, Lethal congenital contracture syndrome 12, OMIM:621511, lethal congenital contracture syndrome 12, MONDO:0981031
Green in Hereditary neuropathy or pain disorder R-numbers: R78 Signed-off version 8.30	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Neuropathy, hereditary sensory and autonomic, type VI, OMIM:614653, hereditary sensory and autonomic neuropathy type 6, MONDO:0013839
Green in Paediatric or syndromic cardiomyopathy Component of the following Super Panels: - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R135 Signed-off version 8.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Congenital myopathy 29 with contractures, OMIM:621510, congenital myopathy 29 with contractures, MONDO:0981030