MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Term ID:10048
Name:PONTOCEREBELLAR HYPOPLASIA, TYPE 1B
Definition:
Alternative IDs:DO:DOID:0060266
ParentIDs:MESH:C580383
TreeNumbers:C10.228.140.252/C580383/614678
Synonyms:PCH1B
Slim Mappings:Nervous system disease
Reference: MedGen: 614678
MeSH: 614678
OMIM: 614678;
MSeqDR LSDB:  
Genes: EXOSC3;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0003577Congenital onset
3 HP:0001760Abnormality of the foot
4 HP:0001344Absent speech
5 HP:0001272Cerebellar atrophy
6 HP:0002350Cerebellar cyst
7 HP:0002059Cerebral atrophy
8 HP:0011968Feeding difficulties
9 HP:0001371Flexion contracture
10 HP:0001290Generalized hypotonia
11 HP:0001263Global developmental delay
NAMDC:  Mental retardation
12 HP:0001263Global developmental delay
NAMDC:  Delayed development (evidence of at least one of A through F)
13 HP:0001510Growth delay
NAMDC:  Growth delay
14 HP:0002827Hip dislocation
15 HP:0001347Hyperreflexia
NAMDC:  Hyperreactive reflexes (incl. Babinski sign, Hoffman sign)
16 HP:0008936Muscular hypotonia of the trunk
17 HP:0000639Nystagmus
18 HP:0000657Oculomotor apraxia
19 HP:0002421Poor head control
20 HP:0000253Progressive microcephaly
21 HP:0002093Respiratory insufficiency
22 HP:0000556Retinal dystrophyHP:0040283
23 HP:0001250Seizures
NAMDC:  Seizures
HP:0040283
24 HP:0003202Skeletal muscle atrophy
25 HP:0001257Spasticity
NAMDC:  Spasticity
26 HP:0000486Strabismus
27 HP:0012473Tongue atrophy
28 HP:0001308Tongue fasciculations
29 HP:0003828Variable expressivity
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_016042.4(EXOSC3):c.*954G>A51010EXOSC3Uncertain significancers530895640RCV000292169; NMONDO:MONDO:0013853,MedGen:C3553449,OMIM:614678, Orphanet:225493777972237779722CT9:g.37779722C>TClinGen:CA10634042
NM_016042.4(EXOSC3):c.*881A>G51010EXOSC3Likely benignrs143319153RCV000347063; NMONDO:MONDO:0013853,MedGen:C3553449,OMIM:614678, Orphanet:225493777979537779795TC9:g.37779795T>CClinGen:CA10627324
NM_016042.4(EXOSC3):c.*847T>A51010EXOSC3Uncertain significancers566642894RCV000383092; NMONDO:MONDO:0013853,MedGen:C3553449,OMIM:614678, Orphanet:225493777982937779829AT9:g.37779829A>TClinGen:CA10627325
NM_016042.4(EXOSC3):c.*812T>G51010EXOSC3Uncertain significancers886063931RCV000288719; NMONDO:MONDO:0013853,MedGen:C3553449,OMIM:614678, Orphanet:225493777986437779864AC9:g.37779864A>CClinGen:CA10633683
NM_016042.4(EXOSC3):c.*795A>G51010EXOSC3Uncertain significancers558579097RCV000343713; NMONDO:MONDO:0013853,MedGen:C3553449,OMIM:614678, Orphanet:225493777988137779881TC9:g.37779881T>CClinGen:CA10627327
NM_016042.4(EXOSC3):c.*611A>G51010EXOSC3Uncertain significance-1RCV001165913; NMONDO:MONDO:0013853,MedGen:C3553449,OMIM:614678, Orphanet:225493778006537780065TC9:g.37780065T>C-
NM_016042.4(EXOSC3):c.*582A>C51010EXOSC3Uncertain significancers886063932RCV000405666; NMONDO:MONDO:0013853,MedGen:C3553449,OMIM:614678, Orphanet:225493778009437780094TG9:g.37780094T>GClinGen:CA10630102
NM_016042.4(EXOSC3):c.*555A>C51010EXOSC3Uncertain significance-1RCV001165914; NMONDO:MONDO:0013853,MedGen:C3553449,OMIM:614678, Orphanet:225493778012137780121TG9:g.37780121T>G-
NM_016042.4(EXOSC3):c.*419A>G51010EXOSC3Uncertain significance-1RCV001165915; NMONDO:MONDO:0013853,MedGen:C3553449,OMIM:614678, Orphanet:225493778025737780257TC9:g.37780257T>C-
NM_016042.4(EXOSC3):c.*402C>T51010EXOSC3Uncertain significancers567641975RCV000340374; NMONDO:MONDO:0013853,MedGen:C3553449,OMIM:614678, Orphanet:225493778027437780274GA9:g.37780274G>AClinGen:CA10634043
NM_016042.4(EXOSC3):c.*354C>G51010EXOSC3Uncertain significancers530037792RCV000395596; NMONDO:MONDO:0013853,MedGen:C3553449,OMIM:614678, Orphanet:225493778032237780322GC9:g.37780322G>CClinGen:CA10634050
NM_016042.4(EXOSC3):c.*354C>A51010EXOSC3Uncertain significance-1RCV001167479; NMONDO:MONDO:0013853,MedGen:C3553449,OMIM:614678, Orphanet:225493778032237780322GT9:g.37780322G>T-
NM_016042.4(EXOSC3):c.*312T>G51010EXOSC3Uncertain significance-1RCV001167480; NMONDO:MONDO:0013853,MedGen:C3553449,OMIM:614678, Orphanet:225493778036437780364AC9:g.37780364A>C-
NM_016042.4(EXOSC3):c.*296T>C51010EXOSC3Benign-1RCV001167481; NMONDO:MONDO:0013853,MedGen:C3553449,OMIM:614678, Orphanet:225493778038037780380AG9:g.37780380A>G-
NM_016042.4(EXOSC3):c.*242A>C51010EXOSC3Uncertain significance-1RCV001167482; NMONDO:MONDO:0013853,MedGen:C3553449,OMIM:614678, Orphanet:225493778043437780434TG9:g.37780434T>G-
NM_016042.4(EXOSC3):c.*197C>T51010EXOSC3Benign-1RCV001167483; NMONDO:MONDO:0013853,MedGen:C3553449,OMIM:614678, Orphanet:225493778047937780479GA9:g.37780479G>A-
NM_016042.4(EXOSC3):c.*194G>C51010EXOSC3Uncertain significancers886063933RCV000301227; NMONDO:MONDO:0013853,MedGen:C3553449,OMIM:614678, Orphanet:225493778048237780482CG9:g.37780482C>GClinGen:CA10630118
NM_016042.4(EXOSC3):c.*118G>T51010EXOSC3Benignrs1059059RCV000355923; NMONDO:MONDO:0013853,MedGen:C3553449,OMIM:614678, Orphanet:225493778055837780558CA9:g.37780558C>AClinGen:CA10634051
NM_016042.4(EXOSC3):c.*64C>T51010EXOSC3Likely benign-1RCV001167484; NMONDO:MONDO:0013853,MedGen:C3553449,OMIM:614678, Orphanet:225493778061237780612GA9:g.37780612G>A-
NM_016042.4(EXOSC3):c.*63T>G51010EXOSC3Uncertain significance-1RCV001168093; NMONDO:MONDO:0013853,MedGen:C3553449,OMIM:614678, Orphanet:225493778061337780613AC9:g.37780613A>C-
NM_016042.4(EXOSC3):c.822_*6del (p.Glu274fs)51010EXOSC3Uncertain significance-1RCV001246208; NMONDO:MONDO:0013853,MedGen:C3553449,OMIM:614678, Orphanet:225493778067037780682ACCTATATCAACTTA9:g.37780670_37780682del-
NM_016042.4(EXOSC3):c.785C>T (p.Ser262Leu)51010EXOSC3Uncertain significancers767942736RCV000818706; NMONDO:MONDO:0013853,MedGen:C3553449,OMIM:614678, Orphanet:225493778071937780719GA9:g.37780719G>A-
NM_016042.4(EXOSC3):c.782C>T (p.Thr261Met)51010EXOSC3Uncertain significancers565320740RCV000692228; NMONDO:MONDO:0013853,MedGen:C3553449,OMIM:614678, Orphanet:225493778072237780722GA9:g.37780722G>A-C3553449 614678 Pontocerebellar hypoplasia, type 1b;
NM_016042.4(EXOSC3):c.757A>G (p.Ile253Val)51010EXOSC3Likely benignrs62640004RCV000437864|RCV000873613; NMedGen:CN169374|MONDO:MONDO:0013853,MedGen:C3553449,OMIM:614678, Orphanet:225493778074737780747TC9:g.37780747T>CClinGen:CA5062671CN169374 not specified;
NM_016042.4(EXOSC3):c.712T>C (p.Trp238Arg)51010EXOSC3Pathogenicrs672601332RCV000024370; NMONDO:MONDO:0013853,MedGen:C3553449,OMIM:614678, Orphanet:225493778079237780792AG9:g.37780792A>GClinGen:CA260047,UniProtKB:Q9NQT5#VAR_068508,OMIM:606489.0005
NM_016042.4(EXOSC3):c.709A>C (p.Ile237Leu)51010EXOSC3Uncertain significance-1RCV001168094; NMONDO:MONDO:0013853,MedGen:C3553449,OMIM:614678, Orphanet:225493778079537780795TG9:g.37780795T>G-
NM_016042.4(EXOSC3):c.673T>C (p.Tyr225His)51010EXOSC3Benignrs3208406RCV000117007|RCV000261175; NMedGen:CN169374|MONDO:MONDO:0013853,MedGen:C3553449,OMIM:614678, Orphanet:225493778083137780831AG9:g.37780831A>GClinGen:CA152804,UniProtKB:Q9NQT5#VAR_054098CN169374 not specified;
NM_016042.4(EXOSC3):c.588T>C (p.Asp196=)51010EXOSC3Likely benignrs147568068RCV000437857|RCV000547599; NMedGen:CN169374|MONDO:MONDO:0013853,MedGen:C3553449,OMIM:614678, Orphanet:225493778202137782021AG9:g.37782021A>GClinGen:CA5062721CN169374 not specified;
NM_016042.4(EXOSC3):c.572G>A (p.Gly191Asp)51010EXOSC3Conflicting interpretations of pathogenicityrs797045567RCV000192511|RCV000625808; NMedGen:CN169374|MONDO:MONDO:0013853,MedGen:C3553449,OMIM:614678, Orphanet:225493778203737782037CT9:g.37782037C>TClinGen:CA205371
NM_016042.4(EXOSC3):c.571G>T (p.Gly191Cys)51010EXOSC3Pathogenicrs730882145RCV000161917; NMONDO:MONDO:0013853,MedGen:C3553449,OMIM:614678, Orphanet:225493778203837782038CA9:g.37782038C>AClinGen:CA273761,OMIM:606489.0007C3553449 614678 Pontocerebellar hypoplasia, type 1b;
NM_016042.4(EXOSC3):c.540T>C (p.Cys180=)51010EXOSC3Benign/Likely benignrs62640003RCV000436938|RCV000537251; NMedGen:CN169374|MONDO:MONDO:0013853,MedGen:C3553449,OMIM:614678, Orphanet:225493778206937782069AG9:g.37782069A>GClinGen:CA5062734CN169374 not specified;
NM_016042.4(EXOSC3):c.498G>A (p.Gln166=)51010EXOSC3Benignrs7158RCV000117006|RCV000603781; NMedGen:CN169374|MONDO:MONDO:0013853,MedGen:C3553449,OMIM:614678, Orphanet:225493778211137782111CT9:g.37782111C>TClinGen:CA152802CN169374 not specified;
NM_016042.4(EXOSC3):c.475-12A>G51010EXOSC3Conflicting interpretations of pathogenicityrs370087266RCV000578597|RCV000696069; NMedGen:CN517202|MONDO:MONDO:0013853,MedGen:C3553449,OMIM:614678, Orphanet:225493778214637782146TC9:g.37782146T>CClinGen:CA5062742CN517202 not provided;
NM_016042.4(EXOSC3):c.430T>C (p.Leu144=)51010EXOSC3Conflicting interpretations of pathogenicityrs138085418RCV000425599|RCV000875625|RCV001168095; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0013853,MedGen:C3553449,OMIM:614678, Orphanet:225493778395537783955AG9:g.37783955A>GClinGen:CA5062761CN169374 not specified;
NM_016042.4(EXOSC3):c.415G>C (p.Ala139Pro)51010EXOSC3Pathogenicrs387907195RCV000024367; NMONDO:MONDO:0013853,MedGen:C3553449,OMIM:614678, Orphanet:225493778397037783970CG9:g.37783970C>GClinGen:CA260045,UniProtKB:Q9NQT5#VAR_068507,OMIM:606489.0002C3553449 614678 Pontocerebellar hypoplasia, type 1b;
NM_016042.4(EXOSC3):c.403G>A (p.Gly135Arg)51010EXOSC3Uncertain significance-1RCV001064055; NMONDO:MONDO:0013853,MedGen:C3553449,OMIM:614678, Orphanet:225493778398237783982CT9:g.37783982C>T-
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala)51010EXOSC3Pathogenic/Likely pathogenicrs141138948RCV000024366|RCV000190687|RCV000224817|RCV000761613|RCV000761614; NMONDO:MONDO:0013853,MedGen:C3553449,OMIM:614678, Orphanet:2254|MeSH:D030342,MedGen:C0950123|MedGen:CN517202|Human Phenotype Ontology:HP:0012758,MedGen:C4022738|Human Phenotype Ontology:HP:0001252,Human Phenotype Ontology:HP:0001318,MedGen:C002682793778399037783990TG9:g.37783990T>GUniProtKB:Q9NQT5#VAR_068506,OMIM:606489.0001,ClinGen:CA204654
NM_016042.4(EXOSC3):c.361G>A (p.Val121Met)51010EXOSC3Uncertain significance-1RCV001043581; NMONDO:MONDO:0013853,MedGen:C3553449,OMIM:614678, Orphanet:225493778402437784024CT9:g.37784024C>T-
NM_016042.4(EXOSC3):c.328G>A (p.Val110Ile)51010EXOSC3Uncertain significancers138169215RCV000193472|RCV000699890; NMedGen:CN169374|MONDO:MONDO:0013853,MedGen:C3553449,OMIM:614678, Orphanet:225493778405737784057CT9:g.37784057C>TClinGen:CA206987
NM_016042.4(EXOSC3):c.325-6T>C51010EXOSC3Uncertain significance-1RCV001168859; NMONDO:MONDO:0013853,MedGen:C3553449,OMIM:614678, Orphanet:225493778406637784066AG9:g.37784066A>G-
NM_016042.4(EXOSC3):c.324+15C>T51010EXOSC3Uncertain significance-1RCV001168860; NMONDO:MONDO:0013853,MedGen:C3553449,OMIM:614678, Orphanet:225493778470337784703GA9:g.37784703G>A-
NM_016042.4(EXOSC3):c.294_303del (p.Val99fs)51010EXOSC3Pathogenicrs672601331RCV000024368; NMONDO:MONDO:0013853,MedGen:C3553449,OMIM:614678, Orphanet:225493778473937784748CCCAGTAAACAC9:g.37784739_37784748delClinGen:CA260046,OMIM:606489.0003C3553449 614678 Pontocerebellar hypoplasia, type 1b;
NM_016042.4(EXOSC3):c.238G>T (p.Val80Phe)51010EXOSC3Likely pathogenicrs374550999RCV000117005|RCV000825519|RCV001200535; NMONDO:MONDO:0013853,MedGen:C3553449,OMIM:614678, Orphanet:2254|MONDO:MONDO:0020135,MedGen:C1261175,OMIM:PS607596, Orphanet:98523|MedGen:CN51720293778480437784804CA9:g.37784804C>AClinGen:CA345539,UniProtKB:Q9NQT5#VAR_074169,OMIM:606489.0006
NM_016042.4(EXOSC3):c.219C>A (p.Arg73=)51010EXOSC3Likely benignrs149583035RCV000611632|RCV000873827; NMedGen:CN169374|MONDO:MONDO:0013853,MedGen:C3553449,OMIM:614678, Orphanet:225493778482337784823GT9:g.37784823G>TClinGen:CA5062827CN169374 not specified;
NM_016042.4(EXOSC3):c.193G>A (p.Val65Ile)51010EXOSC3Conflicting interpretations of pathogenicityrs62640002RCV000192646|RCV000865460; NMedGen:CN169374|MONDO:MONDO:0013853,MedGen:C3553449,OMIM:614678, Orphanet:225493778484937784849CT9:g.37784849C>TClinGen:CA205604
NM_016042.4(EXOSC3):c.166A>C (p.Asn56His)51010EXOSC3Conflicting interpretations of pathogenicityrs148348866RCV000418914|RCV000874627; NMedGen:CN169374|MONDO:MONDO:0013853,MedGen:C3553449,OMIM:614678, Orphanet:225493778487637784876TG9:g.37784876T>GClinGen:CA5062844
NM_016042.4(EXOSC3):c.155del (p.Pro52fs)51010EXOSC3Pathogenicrs886041316RCV000314149|RCV000499694; NMedGen:CN517202|MONDO:MONDO:0013853,MedGen:C3553449,OMIM:614678, Orphanet:225493778488737784887CGC9:g.37784887_37784887delClinGen:CA10603034
NM_016042.4(EXOSC3):c.151C>G (p.Arg51Gly)51010EXOSC3Likely benignrs114878910RCV000877718|RCV001168861; NMedGen:CN517202|MONDO:MONDO:0013853,MedGen:C3553449,OMIM:614678, Orphanet:225493778489137784891GC9:g.37784891G>C-
NM_016042.4(EXOSC3):c.112del (p.Glu38fs)51010EXOSC3Pathogenicrs587780333RCV000117004; NMONDO:MONDO:0013853,MedGen:C3553449,OMIM:614678, Orphanet:225493778493037784930TCT9:g.37784930_37784930delClinGen:CA269779
NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala)51010EXOSC3Pathogenicrs387907196RCV000024369|RCV000853550|RCV001092265; NMONDO:MONDO:0013853,MedGen:C3553449,OMIM:614678, Orphanet:2254|7 conditions|MedGen:CN51720293778495037784950CG9:g.37784950C>GClinGen:CA342800,UniProtKB:Q9NQT5#VAR_068505,OMIM:606489.0004C3553449 614678 Pontocerebellar hypoplasia, type 1b;
NM_016042.4(EXOSC3):c.52_53delinsTC (p.Arg18Ser)51010EXOSC3Uncertain significancers1589061488RCV000805480; NMONDO:MONDO:0013853,MedGen:C3553449,OMIM:614678, Orphanet:225493778498937784990CGGANC_000009.11:g.37784989_37784990delinsGA-
NM_016042.4(EXOSC3):c.53G>C (p.Arg18Pro)51010EXOSC3Conflicting interpretations of pathogenicityrs145677716RCV000923636; NMONDO:MONDO:0013853,MedGen:C3553449,OMIM:614678, Orphanet:225493778498937784989CG9:g.37784989C>G-
NM_016042.4(EXOSC3):c.52C>T (p.Arg18Cys)51010EXOSC3Conflicting interpretations of pathogenicityrs147135294RCV000923637; NMONDO:MONDO:0013853,MedGen:C3553449,OMIM:614678, Orphanet:225493778499037784990GA9:g.37784990G>A-
NM_016042.4(EXOSC3):c.42C>T (p.Gly14=)51010EXOSC3Uncertain significance-1RCV001165972; NMONDO:MONDO:0013853,MedGen:C3553449,OMIM:614678, Orphanet:225493778500037785000GA9:g.37785000G>A-
NM_016042.4(EXOSC3):c.37G>A (p.Ala13Thr)51010EXOSC3Uncertain significance-1RCV001165973; NMONDO:MONDO:0013853,MedGen:C3553449,OMIM:614678, Orphanet:225493778500537785005CT9:g.37785005C>T-
NM_016042.4(EXOSC3):c.37G>C (p.Ala13Pro)51010EXOSC3Uncertain significance-1RCV001204382; NMONDO:MONDO:0013853,MedGen:C3553449,OMIM:614678, Orphanet:225493778500537785005CG9:g.37785005C>G-
NM_016042.4(EXOSC3):c.13G>T (p.Ala5Ser)51010EXOSC3Uncertain significancers549030188RCV000658406|RCV001165974; NMedGen:CN517202|MONDO:MONDO:0013853,MedGen:C3553449,OMIM:614678, Orphanet:225493778502937785029CA9:g.37785029C>A-CN517202 not provided;
NM_016042.4(EXOSC3):c.-11T>C51010EXOSC3Conflicting interpretations of pathogenicityrs373191549RCV000276347|RCV000442496; NMONDO:MONDO:0013853,MedGen:C3553449,OMIM:614678, Orphanet:2254|MedGen:CN16937493778505237785052AG9:g.37785052A>GClinGen:CA5062903
NM_016042.4(EXOSC3):c.-12G>C51010EXOSC3Benignrs115431773RCV000331468|RCV000430380; NMONDO:MONDO:0013853,MedGen:C3553449,OMIM:614678, Orphanet:2254|MedGen:CN16937493778505337785053CG9:g.37785053C>GClinGen:CA5062904
NM_003384.3(VRK1):c.156_160+3del7443VRK1Likely pathogenicrs1566696845RCV000762795; NMONDO:MONDO:0013853,MedGen:C3553449,OMIM:614678, Orphanet:2254149729996297299969ATATCTTGGA14:g.97299962_97299969del-
MSeqDR Portal