Genomics England
GMS Panels
Panels
Genes and Entities

DST

dystonin
OMIM: 113810
PanelMode of inheritanceDetails
5 panels
Green
in Arthrogryposis
R-numbers: R83
Signed-off version 10.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
arthrogryposis, MONDO:0859248, cardiomyopathy, MONDO:0004994, congenital myopathy, MONDO:0019952
Green
in Epidermolysis bullosa and congenital skin fragility
R-numbers: R164
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epidermolysis bullosa simplex, autosomal recessive 2, OMIM:615425
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Arthrogryposis multiplex congenita, MONDO:0015168, arthrogryposis, MONDO:0859248, cardiomyopathy, MONDO:0004994, congenital myopathy, MONDO:0019952
Green
in Hereditary neuropathy or pain disorder
R-numbers: R78
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hereditary Sensory and Autonomic Neuropathy, Type VI, ?Neuropathy, hereditary sensory and autonomic, type VI
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 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
arthrogryposis, MONDO:0859248, cardiomyopathy, MONDO:0004994, congenital myopathy, MONDO:0019952