SYNJ1

PanelMode of inheritanceDetails
5 panels
R-numbers: R56
Signed-off version 3.12
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Parkinson disease 20, early-onset, OMIM:615530
R-numbers: R58
Signed-off version 4.41
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Parkinson disease 20, early-onset, OMIM:615530
R-numbers: R57
Signed-off version 3.56
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Parkinson disease 20, early-onset, 615530, juvenile Parkinsonism
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 4.134
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epileptic encephalopathy, early infantile, 53, 617389
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.343
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
early onset refractory seizures and progressive neurological decline, Epileptic encephalopathy, early infantile, 53, 617389