SYNJ1, synaptojanin 1, 8867

N. diseases: 128; N. variants: 12
Disease: Drug Resistant Epilepsy ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs398122403
rs398122403
Entrez Id: 8867
Gene Symbol: SYNJ1
SYNJ1
CUI: C1096063
Disease:
Drug Resistant Epilepsy 		0.010 GeneticVariation BEFREE Autosomal recessive inherited variants in SYNJ1 have previously been associated with two different neurological diseases: a recurrent homozygous missense variant (p.Arg258Gln) that abolishes Sac1 phosphatase activity was identified in three independent families with early onset parkinsonism, whereas a homozygous nonsense variant (p.Arg136*) causing a severe decrease of mRNA transcript was found in a single patient with intractable epilepsy and tau pathology. 27435091 2016