Pontocerebellar Hypoplasia, Type 1b; Pch1b

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

Pontocerebellar hypoplasia type 1B is a severe autosomal recessive neurologic disorder characterized by a combination of cerebellar and spinal motor neuron degeneration beginning at birth. There is diffuse muscle weakness, progressive microcephaly, global developmental delay, and brainstem involvement (summary by Wan et al., 2012). PCH1B can be divided into mild, moderate, and severe subgroups that vary in age at onset, progression, clinical and neuroradiologic severity, and survival (summary by Halevy et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1A (OMIM ).

Genes related to Pontocerebellar Hypoplasia, Type 1b; Pch1b

EXOSC3

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Clinical Features

Top most frequent phenotypes and symptoms related to Pontocerebellar Hypoplasia, Type 1b; Pch1b

Intellectual disability
Seizures
Global developmental delay
Generalized hypotonia
Microcephaly
Growth delay
Nystagmus
Strabismus
Muscle weakness
Abnormal facial shape

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Pontocerebellar Hypoplasia, Type 1b; Pch1b Recommended genes panels

Panel Name, Specifity and genes Tested/covered
NGS Epilepsy/Seizure Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States). SCN1A, SCN1B, SCN2A, SCN5A, SCN8A, SCN9A, SHH, ST3GAL3, ST3GAL5, STIL, SIX3, SLC2A1, SLC35A2, SLC9A6, SNAP25, SPTAN1, CDKL5, STXBP1, SYN1, SYNGAP1 , (...) View the complete list with 124 more genes Panel complete gene list SCN1A, SCN1B, SCN2A, SCN5A, SCN8A, SCN9A, SHH, ST3GAL3, ST3GAL5, STIL, SIX3, SLC2A1, SLC35A2, SLC9A6, SNAP25, SPTAN1, CDKL5, STXBP1, SYN1, SYNGAP1, SYNJ1, TCF4, TGIF1, TSC1, TSC2, TUBB2A, UBE3A, ZIC2, CNTNAP2, CACNA1A, CACNA2D1, CACNB4, PCDH19, SLC25A19, ARHGEF9, ZEB2, CASK, CASR, TSEN34, VANGL1, ARFGEF2, PLCB1, PCNT, EFHC1, LIAS, SCARB2, PRICKLE1, CDON, CENPJ, NDE1, EXOSC3, ARX, PHF6, ATP6AP2, DEPDC5, CDK5RAP2, KCNT1, MAGI2, ASPM, NALCN, CHD2, DOCK7, CHRNA2, CHRNA4, CHRNB2, SLC25A22, FLVCR2, CLCN2, PRICKLE2, MBD5, TPP1, CLN3, CLN5, CLN6, CLN8, NHLRC1, KCTD7, ABAT, SLC13A5, WDR62, NECAP1, KANSL1, CSTB, CTSD, DCX, TSEN54, TSEN2, MFSD8, SZT2, IQSEC2, ADSL, TBC1D24, CEP152, PNPO, PRRT2, DYRK1A, EMX2, EPM2A, FLNA, FOLR1, FOXG1, FOXH1, MTOR, ABCB1, GABRA1, GABRB3, GABRD, GABRG2, GAMT, GATM, GLI2, GOSR2, ADGRG1, GRIN1, GRIN2A, GRIN2B, HNRNPU, KCNA1, KCNAB1, KCNJ10, KCNJ11, KCNQ2, KCNQ3, LGI1, MCPH1, MECP2, MEF2C, MTHFR, NDUFA1, NEDD4L, NODAL, ATP1A2, NRXN1, OPHN1, PAFAH1B1, ALDH7A1, ATR, PIGA, PNKP, POLG, PPT1, PTCH1, QARS, RELN Specificity 1 % Genes 100 %
Hereditary Spastic Paraplegia Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States). RTN2, SACS, SLC16A2, SLC2A1, KDM5C, SPG11, ATL1, SPAST, SPG7, TFG, ACOX1, TREX1, UCHL1, VAMP1, ERLIN2, CAPN1, BSCL2, SAMHD1, PNPLA6, ERLIN1 , (...) View the complete list with 59 more genes Panel complete gene list RTN2, SACS, SLC16A2, SLC2A1, KDM5C, SPG11, ATL1, SPAST, SPG7, TFG, ACOX1, TREX1, UCHL1, VAMP1, ERLIN2, CAPN1, BSCL2, SAMHD1, PNPLA6, ERLIN1, NIPA1, RAB3GAP2, BICD2, GJC2, EXOSC3, REEP2, SPART, CPT1C, IFIH1, GBA2, DDHD1, TECPR2, SPG21, CYP2U1, KLC2, ZFYVE26, TUBB3, TUBB4A, HACE1, FARS2, FA2H, AP5Z1, ADAR, VPS37A, C19orf12, RNASEH2B, PGAP1, REEP1, CYP7B1, ZFYVE27, C12orf65, WDR45, WASHC5, DDHD2, KIDINS220, ATP13A2, ENTPD1, B4GALNT1, ALS2, HSPD1, AP4B1, AP4E1, AP4M1, AP4S1, ABCD1, KIF1C, KIF5A, L1CAM, MAG, MARS, MECP2, NT5C2, OPA3, KIF1A, PLA2G6, PLP1, PQBP1, SLC33A1, ALDH18A1 Specificity 2 % Genes 100 %
Comprehensive Brain Malformation Panel. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States). SHH, STIL, SIX3, SLC9A6, SOX2, CDKL5, TGIF1, MED12, CEP41, TUBA8, UBE3A, VLDLR, VRK1, ZIC2, ACTB, MRPS16, NSD1, RAB18, ACTG1, SLC25A19 , (...) View the complete list with 86 more genes Panel complete gene list SHH, STIL, SIX3, SLC9A6, SOX2, CDKL5, TGIF1, MED12, CEP41, TUBA8, UBE3A, VLDLR, VRK1, ZIC2, ACTB, MRPS16, NSD1, RAB18, ACTG1, SLC25A19, TMEM237, ZEB2, CASK, TSEN34, ARFGEF2, PCNT, RAB3GAP1, CDON, RAB3GAP2, CENPJ, EXOSC3, FKRP, ARX, PHF6, IER3IP1, CDK5RAP2, ASPM, POMGNT1, DISP1, POMT2, UPF3B, TUBA1A, TUBB3, RARS2, AHI1, COL4A1, KIF1BP, WDR62, TMEM216, ARL13B, CUL4B, TTC21B, OFD1, TCTN2, CPLANE1, TCTN1, TMEM138, DCX, TSEN54, TMEM67, TSEN2, DHCR7, NIPBL, CEP290, DLL1, RPGRIP1L, CC2D2A, CEP152, KIF7, SRPX2, TUBB2B, EMX2, EOMES, EZH2, FKTN, FGF8, FLNA, FOXG1, FOXH1, GAS1, GLI2, GLI3, ADGRG1, HESX1, L1CAM, LAMC3, LARGE1, MCPH1, MECP2, MKS1, MYCN, NFIX, NODAL, NPHP1, OPHN1, OTX2, PAFAH1B1, ATR, ATRX, PIK3CA, POMT1, PQBP1, PTCH1, PTEN, RBBP8, RELN Specificity 1 % Genes 100 %
Hereditary Spastic Paraplegia Exome Panel. By Genetic Services Laboratory University of Chicago (United States). RTN2, SACS, SLC16A2, SLC2A1, KDM5C, SPG11, ATL1, SPAST, SPG7, VAMP1, ERLIN2, CAPN1, BSCL2, PNPLA6, ERLIN1, NIPA1, GJC2, EXOSC3, SPART, CPT1C , (...) View the complete list with 36 more genes Panel complete gene list RTN2, SACS, SLC16A2, SLC2A1, KDM5C, SPG11, ATL1, SPAST, SPG7, VAMP1, ERLIN2, CAPN1, BSCL2, PNPLA6, ERLIN1, NIPA1, GJC2, EXOSC3, SPART, CPT1C, GBA2, DDHD1, TECPR2, SPG21, ZFYVE26, FARS2, FA2H, AP5Z1, C19orf12, REEP1, CYP7B1, C12orf65, IBA57, WASHC5, DDHD2, KIDINS220, ATP13A2, ENTPD1, B4GALNT1, ALS2, HSPD1, AP4B1, AP4E1, AP4M1, AP4S1, ABCD1, KIF1C, KIF5A, L1CAM, MAG, ARL6IP1, NT5C2, KIF1A, PLP1, SLC33A1, ALDH18A1 Specificity 2 % Genes 100 %
Cerebellar/Pontocerebellar Hypoplasia Sequencing Panel. By Genetic Services Laboratory University of Chicago (United States). TUBA8, VLDLR, VRK1, CASK, TSEN34, CDK5, EXOSC3, TUBA1A, TUBB3, RARS2, TSEN54, TSEN2, SEPSECS, TUBB2B, AMPD2, OPHN1, CHMP1A, RELN Specificity 6 % Genes 100 %
Cerebellar/Pontocerebellar Hypoplasia Deletion/Duplication Panel. By Genetic Services Laboratory University of Chicago (United States). TUBA8, VLDLR, VRK1, CASK, TSEN34, CDK5, EXOSC3, TUBA1A, TUBB3, RARS2, TSEN54, TSEN2, SEPSECS, TUBB2B, AMPD2, OPHN1, CHMP1A, RELN Specificity 6 % Genes 100 %
Ataxia Exome Panel. By Genetic Services Laboratory University of Chicago (United States). BCS1L, RTN2, SACS, SCN1A, SCN2A, SCN8A, SCO1, SDHA, SDHD, SLC16A2, SLC17A5, SLC19A2, SLC1A3, SLC20A2, SLC2A1, SLC6A1, SLC9A1, SLC9A6, SNAP25, SOD1 , (...) View the complete list with 457 more genes Panel complete gene list BCS1L, RTN2, SACS, SCN1A, SCN2A, SCN8A, SCO1, SDHA, SDHD, SLC16A2, SLC17A5, SLC19A2, SLC1A3, SLC20A2, SLC2A1, SLC6A1, SLC9A1, SLC9A6, SNAP25, SOD1, SOX10, BTD, SPG11, ATL1, SPAST, SPG7, SPR, SPTAN1, SPTBN2, SQSTM1, CDKL5, STUB1, STXBP1, SUCLG1, SUOX, SURF1, TBCE, TWNK, TCF4, TCN2, TH, ACO2, TINF2, NKX2-1, TRPC3, TSFM, CEP41, TTPA, TTR, UBE3A, UCHL1, UQCRB, VAMP1, VARS, VLDLR, VRK1, WFS1, WWOX, XPA, XRCC4, YME1L1, ZIC1, SAMD9L, ATP8A2, ERLIN2, FBXL4, AAAS, PRX, CA8, CACNA1A, CACNA1G, PRDM8, CACNB4, PCDH19, SCYL1, ELOVL4, TMEM237, NPC2, CAPN1, PUM1, CASK, SNX14, CAV1, TSEN34, CHCHD10, LRPPRC, BSCL2, ABHD12, PANK2, NDUFAF5, APTX, SLC52A3, DNAJC5, TGM6, SLC19A3, PNPLA6, KIF1B, SCARB2, COQ8A, DGAT2, ERLIN1, PRICKLE1, NIPA1, MLC1, SYNE1, SLC39A4, RRM2B, TRNT1, TPK1, GJC2, PDSS1, TDP2, EXOSC3, FKRP, ADA2, NAXE, RNASEH1, SPART, CPT1C, COG4, RTN4IP1, PMPCA, ATPAF2, CAMTA1, NDUFAF1, TDP1, GBA2, NALCN, EBF3, POMGNT1, TTBK2, MECR, COQ4, DDHD1, POMT2, TECPR2, KIAA0586, CCDC88C, POLR1C, CLCN2, COQ6, NUBPL, CHAMP1, PRICKLE2, NDUFA11, SPG21, SUMF1, ZIC4, MBD5, APOPT1, L2HGDH, CYP2U1, TPP1, CLN5, ZFYVE26, TUBA1A, CLN6, TUBB4A, TUBB, CLN8, CLPP, AARS2, HACE1, NDUFAF4, FARS2, FA2H, ELOVL5, RARS2, INPP5E, AHI1, NHLRC1, RNASET2, RNF216, BRAT1, COL18A1, KCTD7, AP5Z1, COX10, COX15, COX6B1, GMPPB, CP, PEX26, PDSS2, SLC13A5, SYT14, ALG6, UBA5, ETHE1, NDUFA12, B9D1, BEAN1, PTRH2, TACO1, WDR62, TCTN3, SIL1, FLVCR1, CSTB, CEP104, CTBP1, OTUD4, CTDP1, TMEM216, MARS2, LRSAM1, TMEM240, SLC25A46, MMADHC, COQ2, CTSD, COQ9, CTSF, RNF170, ARL13B, C19orf12, ANO10, MTPAP, DARS2, CUL4B, CWF19L1, TTC21B, OFD1, TRAPPC11, TCTN2, REEP1, CPLANE1, POMGNT2, WDR73, PIGG, TTC19, CYP27A1, TMEM70, TCTN1, CTC1, CSPP1, PIEZO2, HEPACAM, UROC1, CYP7B1, WDR81, RNF168, CEP120, NAT8L, C12orf65, FOXRED1, TMEM138, COX20, DBT, DCX, IBA57, TSEN54, SLC6A19, NDUFAF2, TMEM107, COX14, VWA3B, TMEM67, TSEN2, MFSD8, NDUFAF6, DKC1, DLAT, DLD, ZNF592, RUBCN, CEP290, KIAA0556, IFT140, TELO2, ADSL, DDHD2, FASTKD2, RPGRIP1L, TBC1D24, CC2D2A, DMXL2, SH3TC2, ROGDI, KIDINS220, ARV1, UQCRQ, DYNC1H1, MTFMT, DNM2, DNMT1, DOCK3, NDUFAF3, PIK3R5, DPM1, POLR3A, ATP13A2, RFT1, SLC52A2, POLR3B, KIF7, PRRT2, SLC46A1, DNAJC19, SEPSECS, TYMP, AFG3L2, EEF2, EGR2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ENTPD1, EOMES, COA5, SDHAF1, EPM2A, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, FKTN, FGF12, FGF14, ISPD, FMR1, FOLR1, FOXG1, FXN, FTL, PET100, ALDH5A1, GABRB3, GALC, B4GALNT1, GAMT, GAN, GBE1, GCH1, GFAP, GJA1, GJB1, GLB1, GCLC, ALS2, GOSR2, SETX, GPI, AMACR, ADGRG1, GRID2, GRM1, GRN, GSS, ABCB7, HARS, HCN1, HERC1, HEXA, HEXB, HIBCH, HLCS, HNRNPH2, HSD17B4, HSPD1, AP1S2, AP4B1, AP4E1, AP4M1, AP4S1, ABCD1, ITM2B, ITPR1, KCNA1, KCNA2, KCNC1, KCNC3, KCND3, KCNJ10, KCNQ2, KIF1C, KIF5A, L1CAM, LAMA1, LARGE1, LIG4, LMNB1, LMNB2, LRP4, MAG, MAPK10, ARL6IP1, MECP2, MKS1, ARSA, MME, MPDU1, MPV17, MPZ, MRE11, ASL, MT-TP, MVK, ASS1, NDUFA1, NDUFA10, NDUFA2, NDUFA9, NDUFB3, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NEU1, NF2, ATCAY, NOL3, PNP, NPC1, NPHP1, ATM, ATP1A2, ATP1A3, NT5C2, NUP62, OPA1, OPA3, OPHN1, ATP2B3, OTC, PAX6, PC, ATP7B, PCNA, CHMP1A, PDE6D, PDHA1, PDHB, PDYN, PEX1, PEX10, PEX16, PEX7, KIF1A, PGK1, AUH, PGM3, PHYH, PLA2G6, PLP1, PMM2, PMP22, PNKD, PNKP, POLG, POMT1, CTSA, PPT1, PRF1, PRKCG, DNAJC3, PRNP, PRPS1, HTRA1, PSAP, SLC33A1, PSEN1, PTS, PEX2, ALDH18A1, BCKDHA, BCKDHB, RARS, RELN Specificity 1 % Genes 100 %
Pontocerebellar hypoplasia type 1B (sequence analysis of EXOSC3 gene). By CGC Genetics (Portugal). EXOSC3 Specificity 100 % Genes 100 %

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Sources and references

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