Parkinson (18 genes) - KUL
Full name: |
Parkinson (18 genes) - KUL
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Description: |
ontent of the panel
6 core genes: PRKN (NM_004562.2, PARK2, parkin), LRRK2 (NM_198578.3, PARK8), DJ-1 (NM_007262.4, PARK7), SNCA (NM_000345.3, PARK4), PINK1 (NM_032409.2, PARK6) andVPS35 (NM_018206.5, PARK17). 10 genes that may be associated with an inherited form of disease of Parkinson: ATP13A2 (NM_022089.3), ATP1A3 (NM_152296.5), ATP6AP2 (NM_005765.2), CHCHD2 (NM_016139.3), DNAJC13 (NM_015268.3), DNAJC6 (NM_001256864.1), FBXO7 (NM_012179.3), PLA2G6 (NM_003560.3), RAB39B (NM_171998.3) and SYNJ1 (NM_003895.3) 2 risk factor genes: GBA gene (NM_001005741.2) and GCH1 gene (NM_000161.2), via NGS (Haloplex) |
Version number: |
last update: 27/09/2021
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Laboratory: | |
Created: |
11 Feb 2020 - 07:49
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Changed: |
23 Sep 2022 - 11:27
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Gene | % of coding sequence sufficiently covered to detect heterozygous mutations | Copy number variation | Comments |
---|---|---|---|
ATP13A2 | 100.00 | 0 | genes that may be associated with an inherited form of disease of Parkinson / NM_022089.3 |
ATP1A3 | 100.00 | 0 | genes that may be associated with an inherited form of disease of Parkinson / NM_152296.5 |
ATP6AP2 | 100.00 | 0 | genes that may be associated with an inherited form of disease of Parkinson / NM_005765.2 |
CHCHD2 | 100.00 | 0 | genes that may be associated with an inherited form of disease of Parkinson / NM_016139.3 |
DNAJC13 | 100.00 | 0 | genes that may be associated with an inherited form of disease of Parkinson / NM_015268.3 |
DNAJC6 | 100.00 | 0 | genes that may be associated with an inherited form of disease of Parkinson / NM_001256864.1 |
FBXO7 | 100.00 | 0 | genes that may be associated with an inherited form of disease of Parkinson / NM_012179.3 |
GBA1 | 100.00 | 0 | risk factor genes / NM_001005741.2 |
GCH1 | 100.00 | 0 | risk factor genes / NM_000161.2 |
LRRK2 | 100.00 | 0 | Core gene / NM_198578.3 |
PARK7 | 100.00 | 0 | Core gene / NM_007262.4 |
PINK1 | 100.00 | 0 | Core gene / NM_032409.2 |
PLA2G6 | 100.00 | 0 | genes that may be associated with an inherited form of disease of Parkinson / NM_003560.3 |
PRKN | 100.00 | 0 | Core gene / NM_004562.2 |
RAB39B | 100.00 | 0 | genes that may be associated with an inherited form of disease of Parkinson / NM_171998.3 |
SNCA | 100.00 | 0 | Core gene / NM_000345.3 |
SYNJ1 | 100.00 | 0 | genes that may be associated with an inherited form of disease of Parkinson / NM_003895.3 |
VPS35 | 100.00 | 0 | Core gene / NM_018206.5 |