Genes in panel
- ABCD1 0
- ACSL4 0
- AFF2 0
- AGA 0
- AP1S2 0
- ARHGEF6 0
- ARHGEF9 0
- ARX 0
- ATP7A 0
- ATRX 0
- BCOR 0
- BRWD3 0
- CASK 0
- CDKL5 0
- CLIC2 0
- CNTNAP2 0
- CUL4B 0
- DCX 0
- DKC1 0
- DLG3 0
- DMD 0
- DYNC1H1 0
- EHMT1 0
- FGD1 0
- FLNA 0
- FMR1 0
- FOXP1 0
- FTSJ1 0
- GDI1 0
- GK 0
- GPC3 0
- GRIA3 0
- GRIN2B 0
- HCCS 0
- HCFC1 0
- HPRT1 0
- HSD17B10 0
- HUWE1 0
- IDS 0
- IL1RAPL1 0
- IQSEC2 0
- KANSL1 0
- KCNJ10 0
- KDM5C 0
- KIF1A 0
- L1CAM 0
- LAMP2 0
- MAN1B1 0
- MAOA 0
- MBD5 0
- MECP2 0
- MED12 0
- MEF2C 0
- MID1 0
- NAA10 0
- NDP 0
- NDUFA1 0
- NHS 0
- NRXN1 0
- NSDHL 0
- NSUN2 0
- OCRL 0
- OFD1 0
- OPHN1 0
- OTC 0
- PAK3 0
- PAX6 0
- PCDH19 0
- PDHA1 0
- PGK1 0
- PHF6 1
- PHF8 0
- PLP1 0
- PORCN 0
- PQBP1 0
- PRPS1 0
- PRSS12 0
- RAB39B 0
- RBM10 0
- RPS6KA3 0
- SHROOM4 0
- SLC16A2 0
- SLC9A6 0
- SMS 0
- SOX3 0
- SYN1 0
- SYP 0
- TCF4 0
- TIMM8A 0
- TRAPPC9 0
- TSPAN7 0
- UBE2A 0
- UBE3A 0
- UPF3B 0
- VPS13B 0
- WDR62 0
- ZDHHC9 0
- ZEB2 0
- ZNF41 0
- ZNF674 0
- ZNF711 0
- ZNF81 0
- ATP6AP2 0
- B3GLCT 1
- CLN8 0
- FTO 0
- IGBP1 0
- KCNK9 0
- LARGE1 1
- MBTPS2 0
- PIGO 0
- PIGV 0
- POMGNT1 0
- POMT1 0
- POMT2 0
- SCN1A 0
- ABCC9 0
- ABCD4 0
- ABHD5 0
- ACAD9 0
- ACBD6 0
- ACE2 0
- ACIN1 0
- ACOT9 0
- ACOX1 0
- ACSF3 0
- ACTB 0
- ACTG1 0
- ACTL6A 0
- ACTL6B 0
- ACVR1 0
- ACY1 0
- ADAR 0
- ADGRG1 0
- ADGRG4 0
- ADK 0
- ADRA2B 0
- ADSL 0
- AGO1 0
- AGPAT2 0
- AGTR2 0
- AHCY 0
- AHI1 0
- AIFM1 0
- AIMP1 0
- AK1 0
- AKAP17A 0
- AKAP4 0
- AKR1C2 0
- AKT3 0
- ALDH18A1 0
- ALDH3A2 0
- ALDH4A1 0
- ALDH5A1 0
- ALG1 0
- ALG12 0
- ALG13 0
- ALG3 0
- ALG6 0
- ALG8 0
- ALX1 0
- ALX4 0
- AMT 0
- ANK3 0
- ANKH 0
- ANKRD11 0
- ANO10 0
- AP3B1 0
- AP4B1 0
- AP4E1 0
- AP4M1 0
- AP4S1 0
- APTX 0
- ARFGEF2 0
- ARG1 0
- ARHGAP36 0
- ARHGAP6 0
- ARHGEF4 0
- ARID1A 0
- ARID1B 0
- ARID2 0
- ARIH1 0
- ARL13B 0
- ARL14EP 0
- ARL6 0
- ARSF 0
- ASB12 0
- ASCC3 0
- ASCL1 0
- ASH1L 0
- ASL 0
- ASMT 0
- ASMTL 0
- ASPA 0
- ASPM 0
- ASXL1 0
- ATIC 0
- ATM 0
- ATP1A2 0
- ATP2A2 0
- ATP2B3 0
- ATP6V0A2 0
- ATR 0
- ATXN3L 0
- AUH 0
- AVPR2 0
- AWAT2 0
- B4GALT1 0
- B4GALT7 0
- BBS1 0
- BBS10 0
- BBS12 0
- BBS2 0
- BBS4 0
- BBS5 0
- BBS7 0
- BBS9 0
- BCKDHA 0
- BCKDHB 0
- BCORL1 0
- BCS1L 0
- BDP1 0
- BLM 0
- BMP15 0
- BRAF 0
- BSCL2 0
- BTD 0
- BTK 0
- BUB1B 0
- C12orf57 0
- C5orf42 0
- CA2 0
- CA8 0
- CACNA1C 0
- CACNA1F 0
- CACNA1G 0
- CACNG2 0
- CAMK2A 0
- CAMK2G 0
- CAP1 0
- CAPN10 0
- CASP2 0
- CBL 0
- CBS 0
- CC2D1A 0
- CC2D2A 0
- CCBE1 0
- CCDC22 0
- CCDC78 0
- CCNA2 0
- CCNB3 0
- CD99 0
- CDH15 0
- CDK16 0
- CDK5RAP2 0
- CDK8 0
- CDON 0
- CENPJ 0
- CEP135 0
- CEP152 0
- CEP290 0
- CEP41 0
- CFAP47 0
- CFP 0
- CHD2 0
- CHD7 0
- CHL1 0
- CLCN4 0
- CLCN5 0
- CLCNKB 0
- CLN3 0
- CLN5 0
- CLN6 0
- CMC4 0
- CNKSR1 0
- CNKSR2 0
- COG1 0
- COG7 0
- COG8 0
- COL4A1 0
- COL4A2 0
- COL4A3BP 1
- COL4A6 0
- COLEC11 0
- COQ2 0
- COQ5 0
- COQ8A 1
- COX10 0
- COX15 0
- CPS1 0
- CPXCR1 0
- CRBN 0
- CREBBP 0
- CRLF2 0
- CSF2RA 0
- CSTF2 0
- CTDP1 0
- CTNNB1 0
- CTPS2 0
- CTSA 0
- CTSD 0
- CTTNBP2 0
- CUX2 0
- CXorf58 0
- CYB5R3 0
- CYP7B1 0
- D2HGDH 0
- DARS2 0
- DBT 0
- DCAF17 0
- DCHS2 0
- DDHD2 0
- DDOST 0
- DDX3X 0
- DDX53 0
- DEAF1 0
- DGKH 0
- DHCR24 0
- DHCR7 0
- DHFR 0
- DHRSX 0
- DHTKD1 0
- DHX30 0
- DIAPH2 0
- DIP2B 0
- DLD 0
- DLG1 0
- DLG2 0
- DLG4 0
- DMPK 0
- DNAJC19 0
- DNMT3B 0
- DOCK11 0
- DOCK8 0
- DPAGT1 0
- DPF1 0
- DPF2 0
- DPF3 0
- DPM1 0
- DPYD 0
- DST 0
- DYM 0
- DYRK1A 0
- EEF1A2 0
- EEF1B2 0
- EFTUD2 0
- EIF2AK3 0
- EIF2S3 0
- ELK1 0
- ELOVL4 0
- ELP2 0
- EMX2 0
- ENOX2 0
- ENTPD1 0
- EP300 0
- EPB41L1 0
- EPPK1 0
- ERCC2 0
- ERCC3 0
- ERCC5 0
- ERCC6 0
- ERCC8 0
- ERLIN2 0
- ESCO2 0
- ESX1 0
- ETHE1 0
- EXOSC3 0
- FAAH2 0
- FAM120C 0
- FAM126A 0
- FAM47B 0
- FAM58A 1
- FANCB 0
- FASN 0
- FBN1 0
- FGFR1 0
- FGFR2 0
- FGFR3 0
- FH 0
- FKBPL 0
- FKRP 0
- FKTN 0
- FOXG1 0
- FOXP2 0
- FRAS1 0
- FRMPD4 0
- FRY 0
- FTL 0
- FUCA1 0
- GAB3 0
- GABRQ 0
- GAD1 0
- GALE 0
- GALT 0
- GAMT 0
- GATAD2B 0
- GATM 0
- GCDH 0
- GCH1 0
- GCSH 0
- GFAP 0
- GFER 0
- GJB1 0
- GJC2 0
- GLB1 0
- GLDC 0
- GLI2 0
- GLI3 0
- GLRA2 0
- GM2A 0
- GMPPB 0
- GNAS 0
- GNPAT 0
- GNS 0
- GON4L 0
- GPHN 0
- GPRASP1 0
- GRB14 0
- GRIA1 0
- GRIA2 0
- GRIK2 0
- GRIN1 0
- GRIN2A 0
- GRM1 0
- GSPT2 0
- GSS 0
- GTF2H5 0
- GTPBP8 0
- GUSB 0
- HAUS7 0
- HAX1 0
- HDAC4 0
- HDAC6 0
- HDAC8 0
- HESX1 0
- HEXA 0
- HEXB 0
- HGSNAT 0
- HIST1H4B 1
- HIST3H3 1
- HIVEP2 0
- HLCS 0
- HNRNPU 0
- HOXA1 0
- HPD 0
- HRAS 0
- HS6ST2 0
- HSPD1 0
- IDUA 0
- IER3IP1 0
- IFNAR2 0
- IGF1 0
- IGSF1 0
- IKBKG 0
- IL3RA 0
- INF2 0
- INPP4A 0
- INPP5E 0
- INTS6L 1
- IRAK1 0
- ISPD 1
- ITGA4 0
- ITIH6 0
- JAM3 0
- KANK1 0
- KAT6B 0
- KCNC3 0
- KCND1 0
- KCNH1 0
- KCNJ11 0
- KCNK12 0
- KCNQ2 0
- KCNQ3 0
- KCNT1 0
- KCTD7 0
- KDM1A 0
- KDM5A 0
- KDM6A 0
- KDM6B 0
- KIF11 0
- KIF1BP 1
- KIF26B 0
- KIF4A 0
- KIF5C 0
- KIF7 0
- KIRREL3 0
- KLF8 0
- KLHL15 0
- KLHL21 0
- KLHL34 0
- KLHL4 0
- KMT2C 0
- KMT2D 0
- KRAS 0
- L2HGDH 0
- LAMA1 0
- LAMA2 0
- LAMC3 0
- LARP7 0
- LAS1L 0
- LHFPL3 0
- LIG4 0
- LIMK1 0
- LINS1 1
- LRP1 0
- LRP2 0
- LRPPRC 0
- LRRK1 0
- MAGEA11 0
- MAGEB1 0
- MAGEB10 0
- MAGEB2 0
- MAGEC1 0
- MAGEC3 0
- MAGED1 0
- MAGEE2 0
- MAGIX 0
- MAGT1 0
- MAN2B1 0
- MANBA 0
- MAOB 0
- MAP2K1 0
- MAP2K2 0
- MAP3K15 0
- MAP7D3 0
- MAT1A 0
- MBNL3 0
- MCCC1 0
- MCCC2 0
- MCOLN1 0
- MCPH1 0
- MED17 0
- MED23 0
- MGAT2 0
- MGAT5B 0
- MIB1 0
- MKKS 0
- MLC1 0
- MLH1 0
- MLYCD 0
- MMAA 0
- MMAB 0
- MMACHC 0
- MMADHC 0
- MOCS1 0
- MOCS2 0
- MORC4 0
- MPDU1 0
- MPLKIP 0
- MRPS22 0
- MSL3 0
- MTF1 0
- MTM1 0
- MTMR1 0
- MTMR8 0
- MTR 0
- MTRR 0
- MUT 1
- MVK 0
- MXRA5 0
- MYCN 0
- MYO1D 0
- MYO1G 0
- MYO5A 0
- MYT1L 0
- NAGA 0
- NAGLU 0
- NALCN 0
- NDE1 0
- NDST1 0
- NDUFA11 0
- NDUFA12 0
- NDUFS1 0
- NDUFS2 0
- NDUFS3 0
- NDUFS4 0
- NDUFS7 0
- NDUFS8 0
- NDUFV1 0
- NECAB2 0
- NECTIN1 1
- NEU1 0
- NEXMIF 1
- NF1 0
- NFIX 0
- NIPBL 0
- NKAP 0
- NKX2-1 0
- NLGN3 0
- NLGN4X 0
- NLRP3 0
- NPHP1 0
- NR1I3 0
- NRAS 0
- NRK 0
- NRXN2 0
- NSD1 0
- NTM 0
- NTRK1 0
- NXF4 1
- NXF5 0
- OCLN 1
- ODF2L 0
- OGT 0
- OR5M1 0
- ORC1 0
- OXCT1 0
- P2RY4 0
- P2RY8 0
- PABPC5 0
- PACS1 0
- PAFAH1B1 0
- PAH 0
- PANK2 0
- PARP1 0
- PASD1 0
- PAX8 0
- PBRM1 0
- PC 0
- PCDH10 0
- PCNT 0
- PDSS1 0
- PDSS2 0
- PECR 0
- PEPD 0
- PEX1 0
- PEX10 0
- PEX11B 0
- PEX12 0
- PEX13 0
- PEX16 0
- PEX19 0
- PEX2 0
- PEX26 0
- PEX3 0
- PEX5 0
- PEX6 0
- PEX7 0
- PGAP2 0
- PGRMC1 0
- PHACTR1 0
- PHF10 0
- PHGDH 0
- PHIP 0
- PHKA1 0
- PIGL 0
- PIGN 0
- PIK3C3 0
- PIK3R2 0
- PIN4 0
- PJA1 0
- PLA2G6 0
- PLCB1 0
- PLCXD1 0
- PLXNB3 0
- PMM2 0
- PNKP 0
- PNP 0
- POC1A 0
- POLA1 0
- POLR3A 0
- POLR3B 0
- PPOX 0
- PPP2R5D 0
- PPT1 0
- PRDX4 0
- PRICKLE3 0
- PRMT9 0
- PRODH 0
- PROX2 0
- PRRG1 0
- PRRG3 0
- PRRT2 0
- PSAP 0
- PSMA7 0
- PSMD10 0
- PTCH1 0
- PTCHD1 0
- PTEN 0
- PTPN11 0
- PTPN21 0
- PUDP 1
- PUS1 0
- PYCR1 0
- RAB18 0
- RAB27A 0
- RAB3GAP1 0
- RAB3GAP2 0
- RAB40AL 0
- RABL6 0
- RAD21 0
- RAF1 0
- RAI1 0
- RALGDS 0
- RAPGEF1 0
- RARS2 0
- RBM28 0
- RELN 0
- RENBP 0
- RFT1 0
- RGN 0
- RGS7 0
- RIT1 0
- RLIM 0
- RMND1 0
- RNASEH2A 0
- RNASEH2B 0
- RNASEH2C 0
- RNASET2 0
- ROGDI 0
- RPGR 0
- RPGRIP1L 0
- RPL10 0
- RTL9 1
- SALL1 0
- SATB2 0
- SC5D 0
- SCAPER 0
- SCN2A 0
- SCN8A 0
- SCO2 0
- SDHA 0
- SERAC1 0
- SETBP1 0
- SETD5 0
- SETDB2 0
- SGSH 0
- SHANK1 0
- SHANK2 0
- SHANK3 0
- SHH 0
- SHOC2 0
- SHOX 0
- SHROOM2 0
- SIL1 0
- SIX3 0
- SKI 0
- SLC12A6 0
- SLC17A5 0
- SLC25A15 0
- SLC25A22 0
- SLC25A53 0
- SLC25A6 0
- SLC26A9 0
- SLC2A1 0
- SLC31A1 0
- SLC33A1 0
- SLC35C1 0
- SLC4A4 0
- SLC6A1 0
- SLC6A17 0
- SLC6A8 0
- SMAD4 0
- SMARCA2 0
- SMARCA4 0
- SMARCB1 0
- SMARCC1 0
- SMARCC2 0
- SMARCD1 0
- SMARCD2 0
- SMARCD3 0
- SMARCE1 0
- SMC1A 0
- SMC3 0
- SMOC1 0
- SMPD1 0
- SNAP29 0
- SNTG1 0
- SOBP 0
- SOS1 0
- SOX10 0
- SOX5 0
- SPG11 0
- SPRED1 0
- SPRY3 0
- SPTAN1 0
- SPTLC2 0
- SRCAP 0
- SRD5A3 0
- SREBF2 0
- SRGAP3 0
- SRPX2 0
- ST3GAL3 0
- STAB2 0
- STAG1 0
- STARD8 0
- STIL 0
- STRA6 0
- STXBP1 0
- SUOX 0
- SURF1 0
- SVBP 1
- SYNCRIP 0
- SYNE1 0
- SYNGAP1 0
- SYT1 0
- SYT14 0
- SYTL4 0
- SYTL5 0
- TAF1 0
- TAF2 0
- TAF7L 0
- TANC2 0
- TAT 0
- TBC1D24 0
- TBC1D8B 0
- TBCE 0
- TCEAL3 0
- TCP10L2 0
- TECR 0
- TENM1 0
- TEPSIN 1
- TGFBR1 0
- TGFBR2 0
- THAP1 0
- THOC2 0
- THRB 0
- THUMPD1 0
- TKTL1 0
- TLR8 0
- TMCO1 0
- TMEM132E 0
- TMEM135 0
- TMEM165 0
- TMEM231 0
- TMEM237 0
- TMEM67 0
- TMLHE 0
- TNKS2 0
- TNPO2 0
- TPP1 0
- TREX1 0
- TREX2 0
- TRIO 0
- TRMT1 0
- TSC1 0
- TSC2 0
- TSC22D3 0
- TSEN2 0
- TSEN34 0
- TSEN54 0
- TTC8 0
- TTI2 0
- TUBA1A 0
- TUBA8 0
- TUBAL3 0
- TUBB2B 0
- TUSC3 0
- UBR1 0
- UBR7 0
- UBTF 0
- UPB1 0
- USP27X 0
- USP9X 0
- UTP14A 0
- VAMP7 0
- VLDLR 0
- VRK1 0
- WAC 0
- WDR11 0
- WDR13 0
- WDR45 0
- WDR45B 0
- WDR81 0
- WNK3 0
- WWC3 0
- XIAP 0
- XK 1
- XKRX 0
- XPA 0
- XPNPEP3 0
- YY1 0
- ZBTB16 0
- ZBTB18 0
- ZBTB40 0
- ZC3H14 0
- ZCCHC12 0
- ZCCHC8 0
- ZDHHC15 0
- ZFHX4 0
- ZFX 0
- ZFYVE26 0
- ZIC2 0
- ZMYM3 0
- ZMYM6 0
- ZMYND12 0
- ZNF425 0
- ZNF526 0
- ZNF592 0
STRs in panel
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This Panel is marked as Internal
Intellectual_disability
Gene: APTX Red List (low evidence)
APTX (aprataxin)
EnsemblGeneIds (GRCh38): ENSG00000137074
EnsemblGeneIds (GRCh37): ENSG00000137074
OMIM: 606350, Gene2Phenotype
APTX is in 16 panels
EnsemblGeneIds (GRCh38): ENSG00000137074
EnsemblGeneIds (GRCh37): ENSG00000137074
OMIM: 606350, Gene2Phenotype
APTX is in 16 panels
0 reviews
Details
- Sources
-
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920
- OMIM
- 606350
- Clinvar variants
- Variants in APTX
- Penetrance
- Complete
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
- Ataxia and cerebellar anomalies - narrow panel
- Mitochondrial disorders
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Early onset dystonia
- Intellectual disability
- Possible mitochondrial disorder - nuclear genes
- Hereditary neuropathy or pain disorder
- Adult onset dystonia, chorea or related movement disorder
- Hereditary ataxia
- Fetal anomalies
- DDG2P
- Hereditary neuropathy
History Filter Activity
8 Oct 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)APTX was added to Intellectual_disabilitypanel. Sources: Radboud University Medical Center, Nijmegen