SYNJ1

PanelMode of inheritanceDetails
5 panels
R-numbers: R56
Signed-off version 1.121
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Parkinson disease 20, early-onset, OMIM:615530
R-numbers: R57
Signed-off version 1.137
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Parkinson disease 20, early-onset, 615530, juvenile Parkinsonism
R-numbers: R59
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epileptic encephalopathy, early infantile, 53, 617389
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
early onset refractory seizures and progressive neurological decline, Epileptic encephalopathy, early infantile, 53, 617389
R-numbers: R58
Signed-off version 2.178
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Parkinson disease 20, early-onset, OMIM:615530