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פאנלים

Parkinson disease

GC_82

Last update: 07.01.2026

Parkinson disease and hereditary parkinsonian syndromes are neurodegenerative disorders characterized by bradykinesia, rigidity, resting tremor, and postural instability. Hereditary forms may also present with dystonia, cognitive decline, psychiatric manifestations, pyramidal signs, or other neurological features.

This panel includes genes associated with autosomal dominant and recessive Parkinson disease, juvenile-onset parkinsonism, atypical parkinsonian syndromes, lysosomal disorders, and neurodegeneration with brain iron accumulation. Representative genes include PRKN, PINK1, PARK7, LRRK2, SNCA, VPS35, GBA, ATP13A2, DNAJC6, SYNJ1, FBXO7, and PLA2G6.

This panel is recommended for patients with early-onset, familial, atypical, or syndromic parkinsonism, particularly when hereditary Parkinson disease is suspected.
ARSA, ATP13A2, ATP1A3, ATP7B, C19ORF12, C19orf12, CHCHD10, CHCHD2, COASY, CP, CSF1R, DCTN1, DDC, DNAJC12, DNAJC5, DNAJC6, FBXO7, FTL, GBA, GBA1, GCH1, GRN, LRRK2, LYST, MAPT, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY, NUS1, OPA3, PANK2, PARK7, PDE10A, PDE8B, PDGFB, PDGFRB, PINK1, PLA2G6, PODXL, POLG, PRKN, PRKRA, PSAP, PSEN1, PTPA, PTRHD1, PTS, RAB32, RAB39B, SLC18A2, SLC20A2, SLC30A10, SLC39A14, SLC6A3, SNCA, SPG11, SPR, SYNJ1, TAF1, TH, TMEM230, TUBB4A, UCHL1, VPS13A, VPS13C, VPS35, WARS2, WDR45, XPR1, ZFYVE26

ClinVar P/LP variants (IDs) not covered: LYST:[3602577] | PANK2: [3897668]

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