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Severe intellectual disability and progressive spastic paraplegia

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Name:
Severe intellectual disability and progressive spastic paraplegia
Description:
Severe intellectual disability and progressive spastic paraplegia is a rare complex spastic paraplegia characterized by an early onset hypotonia that progresses to spasticity, global developmental delay, severe intellectual disability and speech impairment, microcephaly, short stature and dysmorphic features. Patients often become non-ambulatory, and some develop seizures and stereotypic laughter.
ORPHAcode:
280763
Synonyms:
AP4 deficiency syndrome
XREF(s):
Orphanet
ICD-10
OMIM
OMIM
OMIM
OMIM
Analyte(s):
AP4M1
AP4E1
AP4B1
AP4S1
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14
  • Hereditary Spastic Paraplegia & ataxia (genepanel) - UZA
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    AMPD2 99.99 1
    AP4B1 99.97 1
    ATP13A2 99.98 1
    CAMTA1 99.97 1
    COA7 100.00 1
    COQ8A 100.00 1
    COX20 99.40 1
    DARS2 99.86 1
    EIF2B3 99.95 1
    FLVCR1 99.93 1
    GDAP2 99.96 1
    GJC2 96.12 1
    HPDL 100.00 1
    IBA57 96.45 1
    KCNA2 100.00 1
    KCND3 100.00 1
    MMACHC 99.99 1
    MSTO1 98.87 1
    PUM1 99.95 1
    RNF220 99.95 1
    SLC9A1 99.86 1
    TMEM240 99.83 1
    TOE1 99.99 1
    VPS13D 99.85 1
    ALDH18A1 99.96 1
    CWF19L1 99.89 1
    ENTPD1 99.90 1
    ERLIN1 99.96 1
    NKX6-2 96.38 1
    NT5C2 99.89 1
    PHYH 99.65 1
    POLR3A 99.95 1
    ATM 99.83 1
    BSCL2 100.00 1
    CAPN1 100.00 1
    CLP1 100.00 1
    FAR1 99.83 1
    HIKESHI 99.89 1
    MRE11 99.90 1
    SCYL1 99.64 1
    SPTBN2 99.99 1
    TPP1 99.88 1
    AAAS 99.98 1
    B4GALNT1 99.95 1
    EIF2B1 99.96 1
    KCNA1 99.96 1
    KIF5A 99.93 1
    MTRFR 99.85 1
    PRICKLE1 99.97 1
    SCN8A 99.90 1
    VAMP1 99.70 1
    ATP7B 99.99 1
    ATP8A2 99.96 1
    EXOSC8 99.69 1
    FGF14 99.79 1
    KPNA3 99.96 1
    SACS 99.98 1
    SPART 99.99 1
    AP4S1 87.70 1
    ATL1 99.95 1
    DDHD1 99.98 1
    EIF2B2 99.84 1
    GALC 99.88 1
    GCH1 99.74 1
    GLRX5 98.29 1
    IRF2BPL 98.65 1
    NPC2 99.99 1
    TMEM63C 99.99 1
    VRK1 99.94 1
    ZFYVE26 99.96 1
    AP4E1 99.89 1
    CLN6 98.04 1
    HEXA 99.98 1
    NIPA1 96.26 1
    POLG 99.98 1
    SPG11 99.94 1
    SPG21 99.99 1
    TTBK2 99.88 1
    WDR73 99.99 1
    ARL6IP1 99.84 1
    CHMP1A 100.00 1
    FA2H 99.93 1
    SPG7 99.99 1
    STUB1 99.73 1
    CACNA1G 99.89 1
    COASY 99.98 1
    GFAP 99.94 1
    GOSR2 99.75 1
    KIF1C 99.99 1
    NPTX1 99.35 1
    PCYT2 97.60 1
    TSEN54 98.24 1
    VPS53 99.98 1
    WDR45B 99.96 1
    WDR81 100.00 1
    AFG3L2 99.82 1
    NPC1 99.84 1
    ATCAY 99.99 1
    ATP1A3 99.99 1
    C19ORF12 99.36 1
    CACNA1A 99.66 1
    CPT1C 99.99 1
    DNMT1 99.88 1
    EEF2 99.99 1
    KCNC3 94.29 1
    MAG 99.81 1
    OPA3 100.00 1
    PNKP 100.00 1
    PNPLA6 99.88 1
    PRKCG 99.90 1
    RTN2 99.99 1
    TUBB4A 98.81 1
    ALS2 99.91 1
    ATP5MC3 100.00 1
    CYP27A1 99.96 1
    DARS1 99.87 1
    EIF2B4 99.94 1
    HSPD1 99.95 1
    KIDINS220 99.97 1
    KIF1A 99.96 1
    MARS2 100.00 1
    PGAP1 99.64 1
    REEP1 99.99 1
    SELENOI 99.88 1
    SLC1A4 99.95 1
    SPAST 99.83 1
    ABHD12 99.11 1
    DNAJC5 99.99 1
    PDYN 99.98 1
    TGM6 100.00 1
    ARSA 100.00 1
    PLA2G6 99.98 1
    ANO10 99.92 1
    ATG7 99.98 1
    BTD 99.99 1
    CACNA2D2 99.32 1
    CLCN2 99.97 1
    CTNNB1 99.98 1
    EIF2B5 99.95 1
    ITPR1 99.94 1
    OPA1 99.87 1
    RUBCN 99.94 1
    SLC33A1 99.82 1
    TFG 99.34 1
    TSEN2 86.92 1
    AIMP1 99.90 1
    CYP2U1 97.44 1
    EXOSC9 99.86 1
    GRID2 99.98 1
    MTTP 99.96 1
    RFC1 99.44 1
    SEPSECS 99.84 1
    UCHL1 99.99 1
    CCT5 99.97 1
    FAT2 99.94 1
    HEXB 99.91 1
    PCDH12 100.00 1
    REEP2 100.00 1
    SIL1 99.99 1
    SLC1A3 99.90 1
    SLC25A46 99.93 1
    SQSTM1 100.00 1
    THG1L 99.95 1
    ABHD16A 100.00 1
    ARG1 99.98 1
    ELOVL4 99.92 1
    ELOVL5 99.95 1
    FARS2 99.98 1
    GRM1 99.87 1
    HACE1 99.91 1
    PEX7 99.87 1
    RARS2 97.34 1
    SNX14 99.73 1
    SYNE1 99.96 1
    TDP2 99.85 1
    AP4M1 100.00 1
    AP5Z1 99.94 1
    COG5 99.92 1
    IFRD1 99.96 1
    PMPCB 99.98 1
    RNF216 99.99 1
    SAMD9L 99.98 1
    VPS41 99.95 1
    CA8 99.97 1
    CYP7B1 99.87 1
    DDHD2 99.74 1
    ERLIN2 99.94 1
    GPAA1 99.88 1
    RNF170 99.94 1
    TTPA 99.97 1
    WASHC5 99.90 1
    APTX 99.92 1
    AUH 99.95 1
    EXOSC3 99.98 1
    GBA2 99.97 1
    INPP5E 99.75 1
    PMPCA 99.99 1
    SETX 99.96 1
    SPTAN1 99.97 1
    UBAP1 99.96 1
    VLDLR 99.93 1
    ABCB7 98.62 1
    ABCD1 99.78 1
    AIFM1 99.43 1
    AP1S2 97.43 1
    ATP2B3 99.82 1
    CASK 99.40 1
    L1CAM 99.90 1
    PLP1 99.93 1
  • Neurodegeneration with Brain Iron Accumulation (NBIA) - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    AP4M1 100.00 1
    ATP13A2 100.00 1
    C19ORF12 100.00 1
    COASY 100.00 1
    CP 100.00 1
    CRAT 100.00 1
    DCAF17 100.00 1
    DDHD1 100.00 1
    FA2H 100.00 1
    FTL 100.00 1
    GTPBP2 100.00 1
    PANK2 100.00 1
    PLA2G6 100.00 1
    SCP2 100.00 1
    WDR45 100.00 1
    REPS1 100.00 1
  • 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