Belgian Genetic Tests database- Diseases
- Infantile-onset ascending hereditary spastic paralysis
Infantile-onset ascending hereditary spastic paralysis
| Name: |
Infantile-onset ascending hereditary spastic paralysis
|
| Description: |
Infantile-onset ascending hereditary spastic paralysis (IAHSP) is a very rare motor neuron disease characterized by severe spasticity of the lower limbs in early life, progression of spasticity to the upper limbs in late childhood, and dysarthria.
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| ORPHAcode: |
293168
|
| Synonyms: |
IAHSP
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| XREF(s): | |
| Analyte(s): | |
| Created: |
13 May 2019 - 01:02
|
| Changed: |
22 Jun 2023 - 16:14
|
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Neuromuscular disorders (166 genes) - VUB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ACADVL 0.00 0 No value for column 2 ACTA1 0.00 0 No value for column 2 AGRN 0.00 0 No value for column 2 ALDOA 0.00 0 No value for column 2 ALG14 0.00 0 No value for column 2 ALG2 99.94 0 No comment ALS2 100.00 0 No comment ANG 100.00 0 No comment ANO5 100.00 0 No comment ASAH1 99.94 0 No comment ATP7A 100.00 0 No comment ATXN2 89.10 0 No comment B3GALNT2 85.88 0 No comment B4GAT1 100.00 0 No comment BAG3 100.00 0 No comment BICD2 100.00 0 No comment BIN1 100.00 0 No comment BSCL2 100.00 0 No comment C9ORF72 100.00 0 No comment CAV3 100.00 0 No comment CFL2 99.75 0 No comment CHAT 100.00 0 No comment CHKB 99.69 0 No comment CHRNA1 100.00 0 No comment CHRNB1 100.00 0 No comment CHRND 100.00 0 No comment CHRNE 100.00 0 No comment CHRNG 100.00 0 No comment COL6A1 100.00 0 No comment COL6A2 100.00 0 No comment COL6A3 100.00 0 No comment COLQ 100.00 0 No comment CPT2 98.71 0 No comment CRPPA 95.75 0 No comment CRYAB 100.00 0 No comment DAG1 100.00 0 No comment DAO 100.00 0 No comment DCTN1 100.00 0 No comment DES 100.00 0 No comment DGUOK 100.00 0 No comment DMD 100.00 0 No comment DNAJB2 100.00 0 No comment DNAJB6 99.34 0 No comment DNM2 99.95 0 No comment DOK7 98.77 0 No comment DOLK 100.00 0 No comment DPAGT1 100.00 0 No comment DPM1 100.00 0 No comment DPM2 100.00 0 No comment DPM3 100.00 0 No comment DYNC1H1 100.00 0 No comment DYSF 100.00 0 No comment ECEL1 95.92 0 No comment EMD 99.84 0 No comment ENO3 100.00 0 No comment ETFA 100.00 0 No comment ETFB 100.00 0 No comment ETFDH 100.00 0 No comment EXOSC3 100.00 0 No comment FBLN5 100.00 0 No comment FBXO38 100.00 0 No comment FDX2 100.00 0 No comment CFH 100.00 0 No comment FKRP 98.68 0 No comment FKTN 100.00 0 No comment FLNC 100.00 0 No comment FUS 100.00 0 No comment GAA 100.00 0 No comment GARS1 99.53 0 No comment GFPT1 99.98 0 No comment GLE1 100.00 0 No comment GMPPB 100.00 0 No comment GNE 100.00 0 No comment GRN 100.00 0 No comment HADHA 100.00 0 No comment HADHB 100.00 0 No comment HARS1 100.00 0 No comment HEXB 99.82 0 No comment HNRNPA1 99.61 0 No comment HNRNPA2B1 100.00 0 No comment HSPB1 100.00 0 No comment HSPB3 100.00 0 No comment HSPB8 100.00 0 No comment IGHMBP2 100.00 0 No comment ISCU 99.39 0 No comment KBTBD13 97.91 0 No comment KLHL40 100.00 0 No comment KLHL9 100.00 0 No comment LAMA2 100.00 0 No comment LAMB2 100.00 0 No comment LARGE1 100.00 0 No comment LAS1L 100.00 0 No comment LDB3 100.00 0 No comment LMNA 99.93 0 No comment LPIN1 100.00 0 No comment CORIN 98.90 0 No comment MATR3 100.00 0 No comment MEGF10 100.00 0 No comment MTM1 100.00 0 No comment MUSK 100.00 0 No comment MYBPC3 100.00 0 No comment MYH7B 100.00 0 No comment MYH3 100.00 0 No comment MYH7 100.00 0 No comment MYH8 100.00 0 No comment MYOT 100.00 0 No comment NEB 99.99 0 No comment NEFH 84.73 0 No comment OPTN 100.00 0 No comment PABPN1 91.84 0 No comment PFKM 100.00 0 No comment PFN1 100.00 0 No comment PGAM2 100.00 0 No comment PGK1 100.00 0 No comment PGM1 100.00 0 No comment PHKA1 100.00 0 No comment PHKB 100.00 0 No comment PLEC 99.82 0 No comment PLEKHG5 99.10 0 No comment POLG 100.00 0 No comment POMGNT1 100.00 0 No comment POMGNT2 100.00 0 No comment POMK 100.00 0 No comment POMT1 100.00 0 No comment POMT2 99.90 0 No comment PREPL 100.00 0 No comment PYGM 100.00 0 No comment QDPR 99.04 0 No comment RAPSN 100.00 0 No comment REEP1 97.37 0 No comment RXYLT1 99.84 0 No comment RYR1 98.38 0 No comment SCN4A 100.00 0 No comment SELENON 84.04 0 No comment SETX 100.00 0 No comment SIGMAR1 96.60 0 No comment SIL1 100.00 0 No comment SLC18A3 100.00 0 No comment SLC52A2 100.00 0 No comment SLC52A3 100.00 0 No comment SLC5A7 100.00 0 No comment SMN1 96.55 0 No comment SNAP25 100.00 0 No comment SOD1 100.00 0 No comment SQSTM1 93.68 0 No comment SYT2 100.00 0 No comment TAF15 100.00 0 No comment TARDBP 100.00 0 No comment TFG 100.00 0 No comment TIA1 100.00 0 No comment TNNI2 100.00 0 No comment TNNT1 98.58 0 No comment TNNT3 100.00 0 No comment TNPO3 100.00 0 No comment TPM2 100.00 0 No comment TPM3 99.55 0 No comment TRPV4 100.00 0 No comment TSEN54 94.23 0 No comment TTN 100.00 0 No comment UBA1 100.00 0 No comment UBQLN2 99.88 0 No comment UNC13A 99.87 0 No comment VAPB 100.00 0 No comment VCP 98.45 0 No comment VEGFA 98.73 0 No comment VRK1 100.00 0 No comment -
Spastic Paraplegia (89 genes) - IPG
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ALS2 100.00 1 NM_020919.4 AMPD2 100.00 1 NM_001368809.2 AP4B1 100.00 1 NM_001253852.3 AP4E1 100.00 1 NM_007347.5 AP4M1 100.00 1 NM_004722.4 AP4S1 100.00 1 NM_001128126.3 AP5Z1 100.00 1 NM_014855.3 ARL6IP1 100.00 1 NM_015161.3 ARSI 100.00 1 NM_001012301.4 ATL1 100.00 1 NM_015915.5 B4GALNT1 100.00 1 NM_001478.5 BICD2 100.00 1 NM_001003800.2 BSCL2 100.00 1 NM_001122955.3 MTRFR 100.00 1 NM_152269.5 C19ORF12 100.00 1 NM_031448.6 CCT5 100.00 1 NM_012073.5 CYP2U1 100.00 1 NM_183075.3 CYP7B1 100.00 1 NM_004820.5 DDHD1 100.00 1 NM_001160148.2 DDHD2 100.00 1 NM_015214.3 ENTPD1 100.00 1 NM_001776.6 ERLIN1 100.00 1 NM_006459.4 ERLIN2 100.00 1 NM_007175.8 FA2H 100.00 1 NM_024306.5 FLRT1 100.00 1 NM_013280.4 GAD1 100.00 1 NM_000817.3 GBA2 100.00 1 NM_020944.3 GJA1 100.00 1 NM_000165.5 GJC2 100.00 1 NM_020435.4 HSPD1 100.00 1 NM_002156.5 KIF1A 100.00 1 NM_001244008.1 KIF1C 100.00 1 NM_006612.6 KIF5A 100.00 1 NM_004984.4 L1CAM 100.00 1 NM_001278116.2 MAG 100.00 1 NM_002361.4 MARS1 100.00 1 NM_004990.4 NIPA1 100.00 1 NM_144599.5 NT5C2 100.00 1 NM_001351169.2 PGAP1 100.00 1 NM_024989.4 PLP1 100.00 1 NM_000533.5 PNPLA6 100.00 1 NM_001166111.2 RAB3GAP2 100.00 1 NM_012414.4 REEP1 100.00 1 NM_001371279.1 REEP2 100.00 1 NM_001271803.2 RTN2 100.00 1 NM_005619.5 SACS 100.00 1 NM_014363.6 SETX 100.00 1 NM_015046.7 SLC16A2 100.00 1 NM_006517.5 SLC33A1 100.00 1 NM_004733.4 SPART 100.00 1 NM_015087.5 SPAST 100.00 1 NM_014946.3 SPG11 100.00 1 NM_025137.4 SPG21 100.00 1 NM_016630.7 SPG7 100.00 1 NM_003119.4 TECPR2 100.00 1 NM_014844.5 TFG 100.00 1 NM_006070.6 USP8 100.00 1 NM_005154.5 VCP 100.00 1 NM_007126.5 VPS37A 100.00 1 NM_152415.3 WASHC5 100.00 1 NM_014846.4 WDR48 100.00 1 NM_020839.4 ZFR 100.00 1 NM_016107.5 ZFYVE26 100.00 1 NM_015346.4 ADAR 100.00 1 NM_001111.5 AFG3L2 100.00 1 NM_006796.3 ALDH18A1 100.00 1 NM_002860.4 ALDH3A2 100.00 1 NM_000382.3 ATXN1 100.00 1 NM_000332.3 CAPN1 100.00 1 NM_005186.4 COA8 100.00 1 NM_001370595.1 CPT1C 100.00 1 NM_001199753.1 CYP27A1 100.00 1 NM_000784.4 DSTYK 100.00 1 NM_015375.3 FARS2 100.00 1 NM_006567.5 GFAP 100.00 1 NM_002055.5 GLRX5 100.00 1 NM_016417.3 HACE1 100.00 1 NM_020771.4 IBA57 100.00 1 NM_001010867.4 ITPR1 100.00 1 NM_001168272.1 KIDINS220 100.00 1 NM_020738.4 KLC2 100.00 1 NM_001134775.1 KLC4 100.00 1 NM_201521.3 PCYT2 100.00 1 NM_002861.5 RAB18 100.00 1 NM_021252.5 RAB3GAP1 100.00 1 NM_012233.3 TBC1D20 100.00 1 NM_144628.4 UBAP1 100.00 1 NM_016525.5 UCHL1 100.00 1 NM_004181.5 ZFYVE27 100.00 1 NM_001002261.3