Pontocerebellar Hypoplasia, Type 1a; Pch1a

Description

Pontocerebellar hypoplasia (PCH) refers to a group of severe neurodegenerative disorders affecting growth and function of the brainstem and cerebellum, resulting in little or no development. Different types were classified based on the clinical picture and the spectrum of pathologic changes. PCH type 1 is characterized by central and peripheral motor dysfunction associated with anterior horn cell degeneration resembling infantile spinal muscular atrophy (SMA; see SMA1, {253300}); death usually occurs early. In PCH type 2 (see PCH2A, {277470}), there is progressive microcephaly from birth combined with extrapyramidal dyskinesias. PCH3 (OMIM ) is characterized by hypotonia, hyperreflexia, microcephaly, optic atrophy, and seizures. PCH4 (OMIM ) is characterized by hypertonia, joint contractures, olivopontocerebellar hypoplasia, and early death. Patients with PCH5 (OMIM ) have cerebellar hypoplasia apparent in the second trimester and show seizures. PCH6 (OMIM ) is associated with mitochondrial respiratory chain defects (summary by Graham et al., 2010). Also see PCH7 (OMIM ), PCH8 (OMIM ), PCH9 (OMIM ), PCH10 (OMIM ), and PCH11 (OMIM ). Genetic Heterogeneity of Pontocerebellar HypoplasiaAlso see PCH1B (OMIM ), caused by mutation in the EXOSC3 gene (OMIM ); PCH1C (OMIM ), caused by mutation in the EXOSC8 gene (OMIM ); PCH2A (OMIM ), caused by mutation in the TSEN54 gene (OMIM ); PCH2B (OMIM ), caused by mutation in the TSEN2 gene (OMIM ); PCH2C (OMIM ), caused by mutation in the TSEN34 gene (OMIM ); PCH2D (OMIM ), caused by mutation in the SEPSECS gene (OMIM ); PCH3 (OMIM ), caused by mutation in the PCLO gene (OMIM ); PCH4 (OMIM ), caused by mutation in the TSEN54 gene; PCH5 (OMIM ), caused by mutation in the TSEN54 gene; PCH6 (OMIM ), caused by mutation in the RARS2 gene (OMIM ); PCH7 (OMIM ), caused by mutation in the TOE1 gene (OMIM ); PCH8 (OMIM ), caused by mutation in the CHMP1A gene (OMIM ); PCH9 (OMIM ), caused by mutation in the AMPD2 gene (OMIM ); PCH10 (OMIM ), caused by mutation in the CLP1 gene (OMIM ); and PCH11 (OMIM ), caused by mutation in the TBC1D23 gene (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Pontocerebellar Hypoplasia, Type 1a; Pch1a

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Ataxia
  • Muscular hypotonia
  • Muscle weakness
  • Spasticity
  • Flexion contracture
  • Peripheral neuropathy
And another 27 symptoms. If you need more information about this disease we can help you.
Click here to know more about Mendelian.

Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Pontocerebellar Hypoplasia, Type 1a; Pch1a Recommended genes panels

Panel Name, Specifity and genes Tested/covered
NGS Epilepsy/Seizure Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

MTHFR, UBE3A, ADSL, SHH, POLG, SLC25A19, MECP2, LIAS, ABAT, GAMT, GATM, STXBP1, CTSD, SLC25A22, SLC9A6, ALDH7A1, NDUFA1, TPP1, CLN3, ARX , (...)

View the complete list with 125 more genes
Specificity
2 %
Genes
40 %
Hereditary Spastic Paraplegia Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

C12orf65, TUBB3, HSPD1, OPA3, MECP2, ALDH18A1, REEP1, SPG7, ABCD1, ACOX1, FARS2, GJC2, PLP1, SLC2A1, SACS, PLA2G6, ATL1, ZFYVE26, SPG11, SPAST , (...)

View the complete list with 59 more genes
Specificity
2 %
Genes
20 %
Comprehensive Brain Malformation Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

UBE3A, PTEN, TUBB3, CC2D2A, OTX2, TMEM67, NPHP1, CEP290, SHH, SLC25A19, MECP2, TUBA1A, RARS2, MRPS16, SLC9A6, MKS1, SOX2, HESX1, ARX, CDKL5 , (...)

View the complete list with 86 more genes
Specificity
4 %
Genes
80 %
Hereditary Spastic Paraplegia Exome Panel.

By Genetic Services Laboratory University of Chicago in United States.

C12orf65, HSPD1, ALDH18A1, REEP1, SPG7, ABCD1, FARS2, GJC2, PLP1, SLC2A1, SACS, ATL1, ZFYVE26, SPG11, SPAST, KIF5A, L1CAM, NIPA1, SLC33A1, BSCL2 , (...)

View the complete list with 36 more genes
Specificity
2 %
Genes
20 %
Cerebellar/Pontocerebellar Hypoplasia Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

TUBB3, TUBA1A, RARS2, VRK1, RELN, TUBA8, TSEN54, TUBB2B, OPHN1, CASK, EXOSC3, TSEN34, TSEN2, CHMP1A, VLDLR, CDK5, AMPD2, SEPSECS
Specificity
23 %
Genes
80 %
Cerebellar/Pontocerebellar Hypoplasia Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

TUBB3, TUBA1A, RARS2, VRK1, RELN, TUBA8, TSEN54, TUBB2B, OPHN1, CASK, EXOSC3, TSEN34, TSEN2, CHMP1A, VLDLR, CDK5, AMPD2, SEPSECS
Specificity
23 %
Genes
80 %
Ataxia Exome Panel.

By Genetic Services Laboratory University of Chicago in United States.

FMR1, TTR, UBE3A, AARS2, ABHD12, PC, UQCRQ, UQCRB, HLCS, BTD, ATP7B, ATPAF2, AUH, BCKDHA, BCKDHB, BCS1L, TWNK, C12orf65, ADSL, PRKCG , (...)

View the complete list with 460 more genes
Specificity
1 %
Genes
80 %
Pontocerebellar hypoplasia type 1B (sequence analysis of EXOSC3 gene).

By CGC Genetics in Portugal.

EXOSC3
Specificity
100 %
Genes
20 %
Microcephaly and pontocerebellar hypoplasia (NGS panel for 52 genes).

By CGC Genetics in Portugal.

SLC25A19, DNM1L, RARS2, WDR62, DYNC1H1, VRK1, POMT1, MCPH1, ASPM, MBD5, CENPJ, NDE1, PQBP1, TSEN54, PAFAH1B1, STIL, TUBB2B, DYRK1A, PNKP, OPHN1 , (...)

View the complete list with 32 more genes
Specificity
8 %
Genes
80 %
Complex Hereditary Spastic Paraplegia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

C12orf65, VCP, ALDH18A1, REEP1, SPG7, GAD1, ABCD1, GJC2, PLP1, SACS, ATL1, ZFYVE26, SPG11, SPAST, KIF5A, L1CAM, NIPA1, BSCL2, WASHC5, PNPLA6 , (...)

View the complete list with 50 more genes
Specificity
2 %
Genes
20 %
Hereditary Spastic Paraplegia Comprehensive Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

C12orf65, HSPD1, VCP, ALDH18A1, REEP1, SPG7, GAD1, ABCD1, FARS2, GJC2, PLP1, SACS, ATL1, ZFYVE26, SPG11, SPAST, KIF5A, L1CAM, NIPA1, SLC33A1 , (...)

View the complete list with 60 more genes
Specificity
2 %
Genes
20 %
Pontocerebellar Hypoplasia via EXOSC3 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

EXOSC3
Specificity
100 %
Genes
20 %
Pontocerebellar Hypoplasia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

RARS2, VRK1, TSEN54, EXOSC3, TSEN34, TSEN2, CHMP1A, AMPD2, SEPSECS, CLP1, VPS53, TSEN15
Specificity
34 %
Genes
80 %
Mental retardation - different panels.

By Institute of Human Genetics Cologne University in Germany.

FMR1, UBE3A, PTEN, MCCC1, MCCC2, ACAD9, PC, ANKH, HLCS, ATP7A, AUH, B4GALT7, BCKDHA, BCKDHB, BCS1L, C12orf65, ADSL, MMACHC, PRKCG, PAX6 , (...)

View the complete list with 847 more genes
Specificity
1 %
Genes
40 %
Neurogenetic Disorders - panels.

By MGZ Medical Genetics Center in Germany.

MTHFR, TTR, UBE3A, AARS2, ABHD12, ACAD9, ACADM, ACADS, AGL, ACADVL, YARS2, PC, UQCRQ, ARG1, UQCRB, ATP5F1E, ATP7B, ATPAF2, AUH, BCKDHA , (...)

View the complete list with 577 more genes
Specificity
1 %
Genes
80 %
Pontocerebellar Hypoplasia.

By MGZ Medical Genetics Center in Germany.

RARS2, VRK1, TSEN54, EXOSC3, TSEN34, TSEN2, VLDLR, SEPSECS
Specificity
50 %
Genes
80 %
Brain Malformations / Neuronal Migration Disorders.

By MGZ Medical Genetics Center in Germany.

FMR1, UBE3A, PTEN, APP, TUBB3, HSD17B10, HPRT1, PANK2, FH, MECP2, GAMT, STXBP1, TUBA1A, SLC25A22, GLDC, GK, MAOA, ACSL4, SLC9A6, ALDH7A1 , (...)

View the complete list with 246 more genes
Specificity
1 %
Genes
20 %
Pontocerebellar hypoplasia panel.

By Centogene AG - the Rare Disease Company in Germany.

RARS2, VRK1, TSEN54, OPHN1, CASK, EXOSC3, TSEN34, TSEN2, CHMP1A
Specificity
45 %
Genes
80 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
100 %
Pontocerebellar hypoplasia type 1B.

By Centogene AG - the Rare Disease Company in Germany.

EXOSC3
Specificity
100 %
Genes
20 %
Microcephaly and Pontocerebellar Hypoplasia Panel.

By CeGaT GmbH in Germany.

SLC25A19, RARS2, WDR62, DYNC1H1, VRK1, MCPH1, ASPM, MBD5, CENPJ, PQBP1, TSEN54, STIL, DYRK1A, PNKP, CASK, EXOSC3, TSEN34, TSEN2, CEP152, CDK5RAP2 , (...)

View the complete list with 16 more genes
Specificity
12 %
Genes
80 %
Microcephaly and Pontocerebellar Hypoplasia Panel.

By CeGaT GmbH in Germany.

SLC25A19, RARS2, WDR62, DYNC1H1, VRK1, MCPH1, ASPM, MBD5, CENPJ, PQBP1, TSEN54, STIL, DYRK1A, PNKP, CASK, EXOSC3, TSEN34, TSEN2, CEP152, CDK5RAP2 , (...)

View the complete list with 16 more genes
Specificity
12 %
Genes
80 %
Spinal Muscular Atrophy Panel.

By CeGaT GmbH in Germany.

ATP7A, GARS, REEP1, SCO2, HEXA, TRPV4, HSPB8, HSPB1, UBA1, BSCL2, DCTN1, VAPB, BICD2, DYNC1H1, HSPB3, VRK1, IGHMBP2, ASAH1, LAS1L, EXOSC3 , (...)

View the complete list with 7 more genes
Specificity
12 %
Genes
60 %
Spinal Muscular Atrophy (SMA) Panel.

By CeGaT GmbH in Germany.

ATP7A, GARS, REEP1, SCO2, HEXA, TRPV4, HSPB8, HSPB1, UBA1, BSCL2, DCTN1, VAPB, BICD2, DYNC1H1, HSPB3, VRK1, IGHMBP2, ASAH1, LAS1L, EXOSC3 , (...)

View the complete list with 7 more genes
Specificity
12 %
Genes
60 %
Single gene testing EXOSC3.

By CeGaT GmbH in Germany.

EXOSC3
Specificity
100 %
Genes
20 %
EXOSC3 - Gene sequencing.

By Clinical Genetics Academic Medical Center in Netherlands.

EXOSC3
Specificity
100 %
Genes
20 %
Brain malformations.

By Asper Biogene Asper Biogene LLC in Estonia.

TUBB3, INPP5E, CC2D2A, ATP6V0A2, SRD5A3, TMEM67, NPHP1, CEP290, DLD, SLC25A19, MECP2, PDHB, TUBA1A, RARS2, PDP1, GCSH, GLDC, AMT, PDHA1, DLAT , (...)

View the complete list with 125 more genes
Specificity
3 %
Genes
80 %
Brain Malformations: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

TUBB3, CC2D2A, TMEM67, NPHP1, CEP290, TUBA1A, RARS2, MKS1, ARX, WDR62, FKTN, POMGNT1, TMEM216, AHI1, FKRP, VRK1, POMT2, POMT1, LARGE1, ARFGEF2 , (...)

View the complete list with 30 more genes
Specificity
8 %
Genes
80 %
Neurology: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

UBE3A, ADSL, TUBB3, CC2D2A, TMEM67, NPHP1, ADGRV1, CEP290, SHH, POLG, SLC25A19, MECP2, LIAS, GAMT, GATM, STXBP1, TUBA1A, RARS2, CTSD, SLC25A22 , (...)

View the complete list with 144 more genes
Specificity
3 %
Genes
80 %
Brain Malformations: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

TUBB3, CC2D2A, TMEM67, NPHP1, CEP290, TUBA1A, RARS2, MKS1, ARX, WDR62, FKTN, POMGNT1, TMEM216, AHI1, FKRP, VRK1, POMT2, POMT1, LARGE1, ARFGEF2 , (...)

View the complete list with 30 more genes
Specificity
8 %
Genes
80 %
EXOSC3.

By Fulgent Genetics Fulgent Genetics in United States.

EXOSC3
Specificity
100 %
Genes
20 %
Microcephaly and Pontocerebellar Hypoplasia Panel.

By Blueprint Genetics in Finland.

RARS2, GFM1, WDR62, MRE11, PHGDH, DYNC1H1, VRK1, POMT1, MCPH1, ASPM, MBD5, CENPJ, NDE1, PQBP1, TSEN54, PAFAH1B1, STIL, TUBB2B, KANSL1, DYRK1A , (...)

View the complete list with 28 more genes
Specificity
9 %
Genes
80 %
Arthrogryposes Panel.

By Blueprint Genetics in Finland.

FKBP10, RARS2, TK2, PLOD2, SCO2, CHAT, GBE1, PMM2, DPAGT1, GBA, CHRNE, DOK7, FKTN, NEB, RAPSN, TRPV4, MPZ, EGR2, FHL1, SELENON , (...)

View the complete list with 49 more genes
Specificity
6 %
Genes
80 %
Spinal Muscular Atrophy Panel.

By Blueprint Genetics in Finland.

ATP7A, GARS, REEP1, SCO2, HEXA, SMN1, TRPV4, HSPB8, HSPB1, SMN2, UBA1, BSCL2, DCTN1, VAPB, BICD2, DYNC1H1, HSPB3, VRK1, IGHMBP2, ASAH1 , (...)

View the complete list with 10 more genes
Specificity
10 %
Genes
60 %
CarrierMap.

By Recombine in United States.

FMR1, MTHFR, MCCC1, MCCC2, ABCB11, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, PC, USH1C, ALPL, ARG1, HLCS, ATP7A, BTD, ATP7B, BCKDHA , (...)

View the complete list with 281 more genes
Specificity
2 %
Genes
80 %
PONTOCEREBELLAR HYPOPLASIA TYPE 1.

By Laboratorio de Genetica Clinica SL in Spain.

VRK1, EXOSC3
Specificity
100 %
Genes
40 %
Pontocerebellar Hypoplasia , Panel Massive Sequencing (NGS) 8 Genes.

By Reference Laboratory Genetics in Spain.

RARS2, VRK1, TSEN54, OPHN1, CASK, EXOSC3, TSEN34, TSEN2
Specificity
50 %
Genes
80 %
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories in United States.

BRCA1, MTHFR, UBE3A, VHL, MUTYH, TP53, MCCC1, MCCC2, AARS2, ABCB11, ABCB4, ABHD12, ACACA, ACAD9, ACADM, ACADS, AGL, ACADVL, ACAT1, ZNF513 , (...)

View the complete list with 617 more genes
Specificity
1 %
Genes
20 %
RARS2 Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

RARS2
Specificity
100 %
Genes
20 %
RARS2 Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

RARS2
Specificity
100 %
Genes
20 %
RARS2 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

RARS2
Specificity
100 %
Genes
20 %
RARS2 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

RARS2
Specificity
100 %
Genes
20 %
Comprehensive Mitochondrial Metabolic Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

MCCC1, MCCC2, AARS2, ACACA, ACAD9, ACADL, ACADM, AGL, ACADVL, ACAT1, YARS2, PC, GYS2, UQCRQ, ARG1, UQCRB, HLCS, ATP5F1E, BTD, ATPAF2 , (...)

View the complete list with 176 more genes
Specificity
1 %
Genes
20 %
Mitochondrial Disorders Panel (mtDNA Sequencing, Nuclear Genes Sequencing, and Deletion/Duplication).

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

MCCC2, ACAD9, ACADL, ACADM, ACADS, ACADVL, ACAT1, PC, UQCRQ, UQCRB, ATPAF2, BCKDHA, BCKDHB, BCS1L, TWNK, CPT2, OPA1, TRMU, WFS1, DLD , (...)

View the complete list with 132 more genes
Specificity
1 %
Genes
20 %
Comprehensive Brain Malformations Panel.

By GeneDx in United States.

TUBB3, INPP5E, CC2D2A, TMEM67, NPHP1, CEP290, TUBA1A, RARS2, MKS1, ARX, FKTN, POMGNT1, TMEM216, AHI1, FKRP, VRK1, POMT2, POMT1, LARGE1, ARFGEF2 , (...)

View the complete list with 24 more genes
Specificity
7 %
Genes
60 %
Pontocerebellar hypoplasia type 6 (sequence analysis of RARS2 gene).

By CGC Genetics in Portugal.

RARS2
Specificity
100 %
Genes
20 %
Pontocerebellar Hypoplasia via RARS2 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

RARS2
Specificity
100 %
Genes
20 %
Mitochondrial Oxidative Phosphorylation Deficiency Sequencing Panel (Nuclear Genes Only) with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

AARS2, ACAD9, YARS2, UQCRQ, UQCRB, ATP5F1E, ATPAF2, BCS1L, TWNK, C12orf65, ELAC2, OPA1, TRMU, DLD, POLG, NDUFS4, SLC25A4, GARS, AFG3L2, FOXRED1 , (...)

View the complete list with 154 more genes
Specificity
1 %
Genes
20 %
Pontocerebellar Hypoplasia Type 6.

By Institute of Human Genetics Cologne University in Germany.

RARS2
Specificity
100 %
Genes
20 %
Combined Respiratory Chain Defects.

By MGZ Medical Genetics Center in Germany.

AARS2, YARS2, C12orf65, TRMU, POLG, RRM2B, MTO1, DGUOK, SARS2, MTPAP, GFER, SUCLA2, MRPS22, RARS2, DARS2, TUFM, TSFM, MRPS16, TK2, GFM1 , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
20 %
Epilepsy and Mitochondrial Encephalopathy.

By MGZ Medical Genetics Center in Germany.

UBE3A, YARS2, PC, UQCRQ, UQCRB, SDHAF2, OPA1, TRMU, WFS1, POLG, NDUFS4, SLC25A19, SLC25A4, FOXRED1, RRM2B, NDUFAF2, SDHC, PANK2, MECP2, MTO1 , (...)

View the complete list with 166 more genes
Specificity
1 %
Genes
20 %
Mitochondrial Diseases.

By MGZ Medical Genetics Center in Germany.

AARS2, ACAD9, ACADM, ACADS, AGL, ACADVL, YARS2, PC, UQCRQ, UQCRB, ATP5F1E, ATPAF2, AUH, BCS1L, TWNK, C12orf65, SDHAF2, CPT2, OPA1, TRMU , (...)

View the complete list with 148 more genes
Specificity
1 %
Genes
20 %
Mitochondrial Encephalopathy.

By MGZ Medical Genetics Center in Germany.

AARS2, ACAD9, YARS2, PC, UQCRQ, UQCRB, ATP5F1E, ATPAF2, AUH, BCS1L, TWNK, SDHAF2, OPA1, TRMU, WFS1, DLD, POLG, NDUFS4, SLC25A19, SLC25A4 , (...)

View the complete list with 111 more genes
Specificity
1 %
Genes
20 %
Epilepsy.

By MGZ Medical Genetics Center in Germany.

UBE3A, YARS2, PC, UQCRQ, UQCRB, SDHAF2, AMACR, OPA1, TRMU, WFS1, POLG, NDUFS4, SLC25A19, SLC25A4, FOXRED1, RRM2B, NDUFAF2, SDHC, PANK2, MECP2 , (...)

View the complete list with 192 more genes
Specificity
1 %
Genes
20 %
Pontocerebellar hypoplasia type 6.

By Centogene AG - the Rare Disease Company in Germany.

RARS2
Specificity
100 %
Genes
20 %
Nuclear encoded Mitochondriopathies Panel.

By CeGaT GmbH in Germany.

MCCC1, MCCC2, AARS2, ACAD9, ACADM, ACADS, ACADVL, ACAT1, YARS2, FBP1, PC, UQCRQ, UQCRB, HLCS, ATP5F1E, BTD, ATPAF2, AUH, BCKDHA, BCKDHB , (...)

View the complete list with 263 more genes
Specificity
1 %
Genes
20 %
Single gene testing RARS2.

By CeGaT GmbH in Germany.

RARS2
Specificity
100 %
Genes
20 %
RARS2 - Gene sequencing.

By Clinical Genetics Academic Medical Center in Netherlands.

RARS2
Specificity
100 %
Genes
20 %
Mitochondrial Diseases (mtDNA and 133 nuclear genes).

By Asper Biogene Asper Biogene LLC in Estonia.

AARS2, ACAD9, ACADL, ACADM, ACADS, ACADVL, YARS2, FBP1, PC, GYS2, UQCRQ, UQCRB, HLCS, ATP5F1E, ATPAF2, AUH, BCS1L, TWNK, C12orf65, SLC37A4 , (...)

View the complete list with 112 more genes
Specificity
1 %
Genes
20 %
Pontocerebellar Hypoplasia NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

RARS2, VRK1, TSEN54, OPHN1, CASK, TSEN34, TSEN2, SEPSECS
Specificity
38 %
Genes
60 %
Cerebellar Hypoplasia NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

RARS2, VRK1, TSEN54, OPHN1, CASK, TSEN34, TSEN2, SEPSECS
Specificity
38 %
Genes
60 %
Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MTHFR, UBE3A, PC, ARG1, BTD, ATPAF2, BCS1L, C12orf65, ADSL, PAX6, CPT2, PSAP, GNPTAB, GLB1, CC2D2A, PRODH, ATP6V0A2, GNE, HSD17B10, TMEM67 , (...)

View the complete list with 323 more genes
Specificity
1 %
Genes
60 %
Microcephaly NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

SLC25A19, DNM1L, RARS2, WDR62, MRE11, VRK1, POMT1, MCPH1, CENPJ, NDE1, PQBP1, TSEN54, PAFAH1B1, STIL, TUBB2B, PNKP, CASK, TSEN34, TSEN2, CEP152 , (...)

View the complete list with 15 more genes
Specificity
9 %
Genes
60 %
Nuclear-Mito NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

HTT, UBE3A, MUTYH, TP53, MCCC1, MCCC2, AARS2, ACACA, ACAD9, ACADL, ACADM, ACADS, ACADVL, ACAT1, YARS2, FBP1, PC, GYS2, UQCRQ, UQCRB , (...)

View the complete list with 484 more genes
Specificity
1 %
Genes
20 %
RARS2.

By Fulgent Genetics Fulgent Genetics in United States.

RARS2
Specificity
100 %
Genes
20 %
Comprehensive Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MTHFR, UBE3A, PC, ARG1, BTD, ATPAF2, AUH, BCS1L, TWNK, C12orf65, ADSL, PAX6, AMACR, CPT2, PSAP, GNPTAB, GLB1, CC2D2A, PRODH, ATP6V0A2 , (...)

View the complete list with 427 more genes
Specificity
1 %
Genes
60 %
PONTOCEREBELLAR HYPOPLASIA TYPE 6.

By Laboratorio de Genetica Clinica SL in Spain.

RARS2
Specificity
100 %
Genes
20 %
Pontocerebellar hypoplasia, type 1C (sequence analysis of EXOSC8 gene).

By CGC Genetics in Portugal.

EXOSC8
Specificity
100 %
Genes
20 %
Spinal muscular atrophy (NGS panel for 21 genes).

By CGC Genetics in Portugal.

ATP7A, GARS, REEP1, SCO2, TRPV4, HSPB8, UBA1, BSCL2, DCTN1, VAPB, BICD2, DYNC1H1, VRK1, IGHMBP2, ASAH1, PLEKHG5, DNAJB2, SLC5A7, CHCHD10, EXOSC8 , (...)

View the complete list with 1 more genes
Specificity
10 %
Genes
40 %
Joubert syndrome, EXOC8 related.

By Centogene AG - the Rare Disease Company in Germany.

EXOSC8
Specificity
100 %
Genes
20 %
EXOSC8.

By Fulgent Genetics Fulgent Genetics in United States.

EXOSC8
Specificity
100 %
Genes
20 %
Epilepsy Advanced Sequencing and CNV Evaluation - Developmental Brain Malformations.

By Athena Diagnostics Inc in United States.

PAX6, CPT2, SHH, SLC25A19, TUBA1A, FGFR3, ARX, WDR62, FKTN, PEX7, POMGNT1, DPYD, FKRP, POMT2, POMT1, LAMA2, LARGE1, MCPH1, ASPM, FOLR1 , (...)

View the complete list with 20 more genes
Specificity
3 %
Genes
20 %
Epilepsy Advanced Sequencing and CNV Evaluation.

By Athena Diagnostics Inc in United States.

UBE3A, ALPL, ADSL, PAX6, CPT2, ATP6V0A2, HSD17B10, HPRT1, ADGRV1, SHH, POLG, SLC25A19, PANK2, MECP2, LIAS, ABAT, GAMT, GATM, STXBP1, SUCLA2 , (...)

View the complete list with 214 more genes
Specificity
1 %
Genes
20 %
NGS Rhabdomyolysis and Metabolic Myopathies Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

ACADM, AGL, ACADVL, ALDOA, TWNK, GAA, SLC16A1, CPT2, POLG, RRM2B, HADHA, DGUOK, PGM1, LDHA, ENO3, SUCLA2, TSFM, TK2, HADHB, PHKA1 , (...)

View the complete list with 27 more genes
Specificity
3 %
Genes
20 %
NGS Rhabdomyolysis and Metabolic Myopathies Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

ACADM, AGL, ACADVL, ALDOA, TWNK, GAA, SLC16A1, CPT2, POLG, RRM2B, HADHA, DGUOK, PGM1, LDHA, ENO3, SUCLA2, TSFM, TK2, HADHB, PHKA1 , (...)

View the complete list with 27 more genes
Specificity
3 %
Genes
20 %
Epilepsy/Seizure.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

MTHFR, UBE3A, BTD, ADSL, MMACHC, ADGRV1, POLG, MECP2, LIAS, ABAT, GAMT, GATM, STXBP1, CTSD, SLC25A22, GLDC, AMT, SLC9A6, ALDH5A1, ALDH7A1 , (...)

View the complete list with 78 more genes
Specificity
2 %
Genes
20 %
TSEN54 sequencing.

By Genetic Services Laboratory University of Chicago in United States.

TSEN54
Specificity
100 %
Genes
20 %
TSEN54 deletion/duplication analysis.

By Genetic Services Laboratory University of Chicago in United States.

TSEN54
Specificity
100 %
Genes
20 %
Microcephaly Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

UBE3A, SLC25A19, MECP2, SLC9A6, WWOX, CDKL5, FOXG1, SLC2A1, WDR62, NBN, MCPH1, ASPM, ARFGEF2, CENPJ, QARS, NDE1, PQBP1, RAB3GAP1, TSEN54, STIL , (...)

View the complete list with 50 more genes
Specificity
2 %
Genes
20 %
Microcephaly Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

UBE3A, SLC25A19, MECP2, SLC9A6, WWOX, CDKL5, FOXG1, SLC2A1, WDR62, NBN, MCPH1, ASPM, ARFGEF2, CENPJ, QARS, NDE1, PQBP1, RAB3GAP1, TSEN54, STIL , (...)

View the complete list with 59 more genes
Specificity
2 %
Genes
20 %
TSEN54. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

TSEN54
Specificity
100 %
Genes
20 %
TSEN54. Detection of the mutation c.919G>Tby sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

TSEN54
Specificity
100 %
Genes
20 %
Pontocerebellar hypoplasia type 2A (sequence analysis of TSEN54 gene).

By CGC Genetics in Portugal.

TSEN54
Specificity
100 %
Genes
20 %
Pontocerebellar Hypoplasia via TSEN54 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

TSEN54
Specificity
100 %
Genes
20 %
TSEN54-related pontocerebellar hypoplasia.

By Institute of Human Genetics Cologne University in Germany.

TSEN54
Specificity
100 %
Genes
20 %
Pontocerebellar hypoplasia type 2A.

By Centogene AG - the Rare Disease Company in Germany.

TSEN54
Specificity
100 %
Genes
20 %
Pontocerebellar hypoplasia type 4.

By Centogene AG - the Rare Disease Company in Germany.

TSEN54
Specificity
100 %
Genes
20 %
Ataxia and differential diagnoses Panel.

By CeGaT GmbH in Germany.

FMR1, AARS2, ABHD12, UQCRQ, BTD, ATP7B, AUH, TWNK, PRKCG, PAX6, INPP5E, AMACR, OPA1, WFS1, GLB1, CC2D2A, ELOVL4, TMEM67, NPHP1, CEP290 , (...)

View the complete list with 184 more genes
Specificity
1 %
Genes
40 %
Single gene testing TSEN54.

By CeGaT GmbH in Germany.

TSEN54
Specificity
100 %
Genes
20 %
TSEN54 - Gene sequencing.

By Clinical Genetics Academic Medical Center in Netherlands.

TSEN54
Specificity
100 %
Genes
20 %
Epilepsy and Seizure Disorders: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

MTHFR, UBE3A, ADSL, ADGRV1, SHH, POLG, SLC25A19, MECP2, LIAS, ABAT, GAMT, GATM, STXBP1, CTSD, SLC25A22, SLC9A6, ALDH5A1, ALDH7A1, NDUFA1, CYP27A1 , (...)

View the complete list with 90 more genes
Specificity
1 %
Genes
20 %
Epilepsy and Seizure Disorders: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

MTHFR, UBE3A, ADSL, ADGRV1, SHH, POLG, SLC25A19, MECP2, LIAS, ABAT, GAMT, GATM, STXBP1, CTSD, SLC25A22, SLC9A6, ALDH7A1, NDUFA1, TPP1, CLN3 , (...)

View the complete list with 87 more genes
Specificity
1 %
Genes
20 %
TSEN54.

By Fulgent Genetics Fulgent Genetics in United States.

TSEN54
Specificity
100 %
Genes
20 %
Pontocerebellar hypoplasia type 2A.

By Bioarray in Spain.

TSEN54
Specificity
100 %
Genes
20 %
Pontocerebellar hypoplasia type 2.

By Bioarray in Spain.

TSEN54
Specificity
100 %
Genes
20 %
Pontocerebellar hypoplasia type 4.

By Bioarray in Spain.

TSEN54
Specificity
100 %
Genes
20 %
PONTOCEREBELLAR HYPOPLASIA TYPE 2.

By Laboratorio de Genetica Clinica SL in Spain.

TSEN54, TSEN34, TSEN2
Specificity
34 %
Genes
20 %
PONTOCEREBELLAR HYPOPLASIA TYPE 4/5.

By Laboratorio de Genetica Clinica SL in Spain.

TSEN54
Specificity
100 %
Genes
20 %
Microcephaly with Pontocerebellar Hypoplasia Type 2 , Sequencing TSEN54 Gene.

By Reference Laboratory Genetics in Spain.

TSEN54
Specificity
100 %
Genes
20 %
TSEN54-Related Pontocerebellar Hypoplasia: gene sequencing.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

TSEN54
Specificity
100 %
Genes
20 %
Atypical Spinal Muscular Atrophy Advanced Sequencing Evaluation.

By Athena Diagnostics Inc in United States.

GARS, TRPV4, HSPB8, HSPB1, UBA1, BICD2, DYNC1H1, HSPB3, VRK1, IGHMBP2
Specificity
10 %
Genes
20 %
Neuromuscular Disorders Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

ATP7A, TWNK, GAA, GNE, TRIM32, POLG, SLC25A4, GARS, RRM2B, CRYAB, VCP, AGK, CAVIN1, DPM3, SUCLA2, PNPLA2, REEP1, POLG2, TK2, DPM1 , (...)

View the complete list with 124 more genes
Specificity
1 %
Genes
20 %
Comprehensive Neuromuscular Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

GAA, GNE, TRIM32, CRYAB, VCP, CAVIN1, CHAT, PYGM, PMM2, DMD, CHRNE, DOK7, FKTN, NEB, SGCA, SGCB, POMGNT1, SGCG, CAPN3, RAPSN , (...)

View the complete list with 59 more genes
Specificity
2 %
Genes
20 %
Pontocerebellar hypoplasia type 1A (sequence analysis of VRK1 gene).

By CGC Genetics in Portugal.

VRK1
Specificity
100 %
Genes
20 %
Pontocerebellar Hypoplasia via VRK1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

VRK1
Specificity
100 %
Genes
20 %
Neuropathy.

By MGZ Medical Genetics Center in Germany.

TTR, ABHD12, ATP7A, C12orf65, GAA, FBLN5, OPTN, AMACR, POLG, GARS, MFN2, HADHA, VCP, HARS, KARS, SPTLC2, REEP1, HADHB, TYMP, SQSTM1 , (...)

View the complete list with 102 more genes
Specificity
1 %
Genes
20 %
Pontocerebellar hypoplasia type 1A.

By Centogene AG - the Rare Disease Company in Germany.

VRK1
Specificity
100 %
Genes
20 %
Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel.

By CeGaT GmbH in Germany.

MTHFR, ABHD12, ARG1, ATP7A, AUH, C12orf65, PSEN1, OPTN, OPA1, GLB1, ELOVL4, HSPD1, GARS, AFG3L2, PANK2, OPA3, VCP, ALDH18A1, MTPAP, SPR , (...)

View the complete list with 123 more genes
Specificity
1 %
Genes
20 %
Single gene testing VRK1.

By CeGaT GmbH in Germany.

VRK1
Specificity
100 %
Genes
20 %
VRK1 - Gene sequencing.

By Clinical Genetics Academic Medical Center in Netherlands.

VRK1
Specificity
100 %
Genes
20 %
Pontocerebellar hypoplasia type 1.

By Praxis fuer Humangenetik Wien in Austria.

VRK1
Specificity
100 %
Genes
20 %
Pontocerebellar hypoplasia type 1.

By MedGene in Slovakia.

VRK1
Specificity
100 %
Genes
20 %
Expanded Neuromuscular Disorders: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

GAA, GNE, TRIM32, CRYAB, CAVIN1, CHAT, PYGM, PMM2, DMD, CHRNE, DOK7, FKTN, NEB, SGCA, SGCB, POMGNT1, SGCG, CAPN3, RAPSN, DNM2 , (...)

View the complete list with 58 more genes
Specificity
2 %
Genes
20 %
Expanded Neuromuscular Disorders: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

GAA, GNE, TRIM32, CRYAB, CAVIN1, CHAT, PYGM, PMM2, DMD, CHRNE, DOK7, FKTN, NEB, SGCA, SGCB, POMGNT1, SGCG, CAPN3, RAPSN, DNM2 , (...)

View the complete list with 57 more genes
Specificity
2 %
Genes
20 %
VRK1.

By Fulgent Genetics Fulgent Genetics in United States.

VRK1
Specificity
100 %
Genes
20 %
Muscle Polyneuropathies , Panel Massive Sequencing (NGS) 111 Genes.

By Reference Laboratory Genetics in Spain.

GAA, GNE, TRIM32, CRYAB, VCP, CAVIN1, DPM3, PNPLA2, DPM1, PHKA1, CHAT, PYGM, PMM2, DMD, CHRNE, DOK7, FKTN, NEB, PEX2, PEX7 , (...)

View the complete list with 91 more genes
Specificity
1 %
Genes
20 %
Spinal Muscular Atrophy and related Disorders , Panel Massive Sequencing (NGS) 19 Genes.

By Reference Laboratory Genetics in Spain.

ATP7A, GARS, REEP1, SCO2, SMN1, TRPV4, HSPB8, SMN2, UBA1, BSCL2, DCTN1, VAPB, DYNC1H1, VRK1, IGHMBP2, ASAH1, PLEKHG5, DNAJB2, SLC5A7
Specificity
6 %
Genes
20 %

Alternate names

Pontocerebellar Hypoplasia, Type 1a; Pch1a Is also known as pch1, pontocerebellar hypoplasia with infantile spinal muscular atrophy, pontocerebellar hypoplasia with anterior horn cell disease;norman disease; pch1.


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like PSEUDOHYPOPARATHYROIDISM, TYPE IA; PHP1A NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIA; HMN7A HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION; HOMGSMR CARDIOFACIOCUTANEOUS SYNDROME 4; CFC4 3MC SYNDROME 1; 3MC1 HYPEREKPLEXIA, HEREDITARY 1; HKPX1 CENANI-LENZ SYNDACTYLY SYNDROME; CLSS