Gene | Description | Location | Mutation | Sample Count | Diagnosis |
GBA | GLUCOSIDASE, BETA, ACID; GBA | 1q21 | ASN370SER | 5 | PARKINSON DISEASE |
LRRK2 | LEUCINE-RICH REPEAT KINASE 2; LRRK2 | 12q12 | GLY2019SER | 1 | ASYMPTOMATIC OR UNDIAGNOSED AND GENETICALLY RELATED TO AN AFFECTED INDIVIDUAL |
LRRK2 | LEUCINE-RICH REPEAT KINASE 2; LRRK2 | 12q12 | GLY2019SER | 18 | PARKINSON DISEASE |
LRRK2 | LEUCINE-RICH REPEAT KINASE 2; LRRK2 | 12q12 | THR2356ILE | 1 | PARKINSON DISEASE |
LRRK2 | LEUCINE-RICH REPEAT KINASE 2; LRRK2 | 12q12 | IVS20+4delGT | 1 | LEUCINE-RICH REPEAT KINASE2; LRRK2 |
MAPT | MICROTUBULE-ASSOCIATED PROTEIN TAU; MAPT | 17q21.1 | ASN279LYS | 2 | ASYMPTOMATIC OR UNDIAGNOSED AND GENETICALLY RELATED TO AN AFFECTED INDIVIDUAL |
MAPT | MICROTUBULE-ASSOCIATED PROTEIN TAU; MAPT | 17q21.1 | ASN279LYS | 1 | PALLIDOPONTONIGRAL DEGENERATION |
MAPT | MICROTUBULE-ASSOCIATED PROTEIN TAU; MAPT | 17q21.1 | VAL337MET | 1 | ASYMPTOMATIC OR UNDIAGNOSED AND GENETICALLY RELATED TO AN AFFECTED INDIVIDUAL |
MAPT | MICROTUBULE-ASSOCIATED PROTEIN TAU; MAPT | 17q21.1 | PRO301LEU | 2 | ASYMPTOMATIC OR UNDIAGNOSED AND GENETICALLY RELATED TO AN AFFECTED INDIVIDUAL |
PARK2 | PARKIN; PARK2 | 6q25.2-q27 | EX4DEL | 2 | ASYMPTOMATIC OR UNDIAGNOSED AND GENETICALLY RELATED TO AN AFFECTED INDIVIDUAL |
PARK2 | PARKIN; PARK2 | 6q25.2-q27 | EX4DEL | 1 | ESSENTIAL TREMOR-MOVEMENT DISORDER |
PARK2 | PARKIN; PARK2 | 6q25.2-q27 | EX4DEL | 1 | PARKIN; PARK2 |
PARK2 | PARKIN; PARK2 | 6q25.2-q27 | ARG275TRP | 2 | PARKINSON DISEASE |
PARK2 | PARKIN; PARK2 | 6q25.2-q27 | GLN34ARG | 1 | PARKINSON DISEASE |
PARK2 | PARKIN; PARK2 | 6q25.2-q27 | ARG42PRO | 2 | PARKINSON DISEASE |
PARK2 | PARKIN; PARK2 | 6q25.2-q27 | EX3DEL | 2 | PARKINSON DISEASE |
PARK2 | PARKIN; PARK2 | 6q25.2-q27 | ALA82GLU | 1 | PARKINSON DISEASE |
PARK2 | PARKIN; PARK2 | 6q25.2-q27 | EX3-4DEL | 1 | PARKINSON DISEASE |
PARK2 | PARKIN; PARK2 | 6q25.2-q27 | 1-BP DEL, 255A | 1 | PARKINSON DISEASE |
PARK2 | PARKIN; PARK2 | 6q25.2-q27 | EX5-6 DEL | 1 | PARKINSON DISEASE |
PGRN | GRANULIN PRECURSOR; GRN | 17q21.32 | 26C>A | 1 | ASYMPTOMATIC OR UNDIAGNOSED AND GENETICALLY RELATED TO AN AFFECTED INDIVIDUAL |
SNCA | SYNUCLEIN, ALPHA; SNCA | 4q21 | TRIPLICATION | 2 | PARKINSON DISEASE,FAMILIAL, TYPE 1; PARK1 |
SOD1 | SUPEROXIDE DISMUTASE 1; SOD1 | 21q22.11 | ASP91ALA | 1 | PRIMARY LATERAL SCLEROSIS |