Genomics England
GMS Panels
Panels
Genes and Entities

SYNJ1

synaptojanin 1
OMIM: 604297
PanelMode of inheritanceDetails
5 panels
Green
in Adult onset dystonia, chorea or related movement disorder
R-numbers: R56
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Parkinson disease 20, early-onset, OMIM:615530
Green
in Adult onset neurodegenerative disorder
R-numbers: R58
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Parkinson disease 20, early-onset, OMIM:615530
Green
in Childhood onset dystonia, chorea or related movement disorder
R-numbers: R57
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Parkinson disease 20, early-onset, 615530, juvenile Parkinsonism
Green
in Early onset or syndromic epilepsy
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epileptic encephalopathy, early infantile, 53, 617389
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 9.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
early onset refractory seizures and progressive neurological decline, Epileptic encephalopathy, early infantile, 53, 617389