Belgian Genetic Tests database- Diseases
- ATP13A2-related juvenile neuronal ceroid lipofuscinosis
ATP13A2-related juvenile neuronal ceroid lipofuscinosis
| Name: |
ATP13A2-related juvenile neuronal ceroid lipofuscinosis
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| Description: |
A rare neuronal ceroid lipofiscinosis disorder characterized by juvenile-onset of progressive spinocerebellar ataxia, bulbar syndrome (manifesting with dysarthria, dysphagia and dysphonia), pyramidal and extrapyramidal involvement (including myoclonus, amyotrophy, unsteady gait, akinesia, rigidity, dysarthric speech) and intellectual deterioration. Muscle biopsy displays autofluorescent bodies and lipofuscin deposits in brain and, occasionally the retina, upon post mortem.
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| ORPHAcode: |
314632
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| Synonyms: |
CLN12 disease
Juvenile parkinsonism-neuronal ceroid lipofuscinosis
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| XREF(s): | |
| Analyte(s): | |
| Created: |
13 May 2019 - 01:02
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| Changed: |
22 Jun 2023 - 16:14
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Neurodegeneration (99 genes) - IPG
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ANG 100.00 1 NM_001145.4 ANXA11 100.00 1 NM_145868.2 APP 100.00 1 NM_000484.4 ATP13A2 100.00 1 NM_022089.4 CHMP2B 100.00 1 NM_014043.4 DCTN1 100.00 1 NM_004082.4 ERBB4 100.00 1 NM_005235.3 FIG4 100.00 1 NM_014845.6 FUS 100.00 1 NM_004960.4 GBA1 100.00 1 NM_000157.4 GRN 100.00 1 NM_002087.3 KIF5A 100.00 1 NM_004984.4 LRRK2 100.00 1 NM_198578.4 MAPT 100.00 1 NM_001123066.3 MATR3 100.00 1 NM_018834.6 NEFH 100.00 1 NM_021076.4 NEK1 100.00 1 NM_001199397.3 NOTCH3 100.00 1 NM_000435.3 OPTN 100.00 1 NM_001008212.2 PARK7 100.00 1 NM_007262.5 PFN1 100.00 1 NM_005022.4 PINK1 100.00 1 NM_032409.3 PRKN 100.00 1 NM_004562.3 PRNP 100.00 1 NM_000311.5 PRPH 100.00 1 NM_006262.4 PSEN1 100.00 1 NM_000021.4 PSEN2 100.00 1 NM_000447.3 SETX 100.00 1 NM_015046.7 SIGMAR1 100.00 1 NM_005866.4 SNCA 100.00 1 NM_000345.4 SOD1 100.00 1 NM_000454.5 SPG11 100.00 1 NM_025137.4 TARDBP 100.00 1 NM_007375.4 TUBA4A 100.00 1 NM_006000.3 UBQLN2 100.00 1 NM_013444.3 VAPB 100.00 1 NM_004738.5 VCP 100.00 1 NM_007126.5 AARS2 100.00 1 NM_020745.4 ABAT 100.00 1 NM_020686.6 ABCB7 100.00 1 NM_001271696.3 ABCD1 100.00 1 NM_000033.4 ADPRS 100.00 1 NM_017825.3 AFG3L2 100.00 1 NM_006796.3 AP5Z1 100.00 1 NM_014855.3 APOE 100.00 1 NM_000041.4 ARSA 100.00 1 NM_000487.6 ATP1A3 100.00 1 NM_152296.5 ATP6AP2 100.00 1 NM_005765.3 C19ORF12 100.00 1 NM_031448.6 C9ORF72 100.00 1 NM_018325.5 CCNF 100.00 1 NM_001761.3 CHCHD10 100.00 1 NM_213720.3 CHCHD2 100.00 1 NM_016139.4 CLN3 100.00 1 NM_001042432.2 CLN5 100.00 1 NM_006493.4 CLN6 100.00 1 NM_017882.3 CLN8 100.00 1 NM_018941.4 COA7 100.00 1 NM_023077.3 COASY 100.00 1 NM_025233.7 CRAT 100.00 1 NM_000755.5 CSF1R 100.00 1 NM_005211.3 CTSD 100.00 1 NM_001909.5 CTSF 100.00 1 NM_003793.4 DNAJC13 100.00 1 NM_015268.4 DNAJC5 100.00 1 NM_025219.3 DNAJC6 100.00 1 NM_001256864.2 EIF4G1 100.00 1 NM_198241.3 FA2H 100.00 1 NM_024306.5 FBXO7 100.00 1 NM_012179.4 FTL 100.00 1 NM_000146.4 FXN 100.00 1 NM_000144.5 GCH1 100.00 1 NM_000161.3 GIGYF2 100.00 1 NM_001103146.3 GLUD2 100.00 1 NM_012084.4 GRID2 100.00 1 NM_001510.4 IREB2 100.00 1 NM_004136.4 ITM2B 100.00 1 NM_021999.5 KLC4 100.00 1 NM_201521.3 MFSD8 100.00 1 NM_001371596.2 NPC1 100.00 1 NM_000271.5 NPC2 100.00 1 NM_006432.5 PANK2 100.00 1 NM_153638.3 PGAP1 100.00 1 NM_024989.4 PLA2G6 100.00 1 NM_003560.4 PODXL 94.00 1 NM_001018111.3 POLG 100.00 1 NM_001126131.2 PPT1 100.00 1 NM_000310.4 RAB18 100.00 1 NM_021252.5 REPS1 100.00 1 NM_001286611.1 SLC6A3 100.00 1 NM_001044.5 SPG21 100.00 1 NM_016630.7 SQSTM1 100.00 1 NM_003900.5 SYNJ1 100.00 1 NM_003895.3 TBK1 100.00 1 NM_013254.4 UBTF 100.00 1 NM_014233.4 UCHL1 100.00 1 NM_004181.5 VPS13C 100.00 1 NM_020821.3 VPS35 100.00 1 NM_018206.6 WDR45 100.00 1 NM_001029896.2