Pompe disease GAA variant database
Displaying 2151 - 2200 of 2717
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patients 		Allele 1 DNA Allele 2
Location 		Allele 2 DNA Allele 2
Phenotype with a null allele 		Phenotype
of patient 		Age of
Onset 		Gender Age at
analysis 		Cardiomyopathy Liver/
Spleen 		Ventilatory
support 		Respiratory
problems 		Wheelchair
dependency 		Mobility
problems 		(Kypho)
Scoliosis 		Ptosis Scapular
winging 		Cerebral vessels
anomalies 		No of patients
reported 		Country/Region
PubMed c.2024_2026del exon 14 c.1935C>A Classic infantile Classic infantile 3-6 months/3-6 months unknown (2) +/+ +/+ 2 Taiwan
PubMed c.2024_2026del exon 14 c.1935C>A Classic infantile Classic infantile <1 month died 1 Taiwan
PubMed c.2024_2026del exon 14 c.1935C>A Classic infantile unknown unknown unknown 1 China
PubMed c.2024_2026del exon 9 c.1411_1414del Classic infantile Classic infantile ~3.4 months M/M ~4.9 months +/+ +/+ 2 Southern China
PubMed c.2024_2026del second mutation is not reported Classic infantile <12 months + 0
PubMed c.2024_2026del exon 8 c.1226_1227insG Classic infantile Classic infantile 3 months 7 months + 1 Thailand
PubMed c.2024A>G exon 15 c.2132C>G Classic infantile Classic infantile ~3.4 months M ~4.9 months + + 1 Northern China
PubMed c.2040G>A exon 14 c.1927G>A Classic infantile Childhood at birth M 13 years + + + + 1 Caucasian
PubMed c.2040G>A exon 14 c.1927G>A Classic infantile Childhood 11 months M 17 years + + + + 1 Canada
PubMed c.2040+1G>T exon 14 c.1935C>A Classic infantile Classic infantile 3 weeks F 48 days + - + - 1 Taiwan
PubMed c.2040+2dup intron 14 c.2040+2dup Unknown (disease-associated) Childhood 2 years M 9 years/15 years - + + - 1 Iran
c.2040+12G>A unknown 0
c.2040+20A>G not disease-associated 0
c.2040+20A>T unknown 0
c.2040+22G>T unknown 0
PubMed c.2040+29_2190-270del second mutation is not reported Classic infantile <12 months + 1 Souther India
c.2040+66C>T not disease-associated 0
c.2040+69A>G not disease-associated 0
c.2041-64G>A not disease-associated 0
c.2041-61del unknown 0
PubMed c.2041-2A>C exon 12 c.1655T>C Classic infantile Classic infantile <1 year <1.5 years + 1 Germany
PubMed c.2041-2A>C exon 6 c.1064T>C Classic infantile or Childhood Classic infantile 3 months F 5 months + non invasive ventilation + 1 Italy
PubMed c.2041-2A>G second mutation is not reported Classic infantile <12 months + 0
PubMed c.2041-1G>A exon 2 c.546G>A Adult Childhood or Adult unknown >10 years - 1 USA
PubMed c.2041-1G>A intron 1B c.-32-13T>G Childhood or Adult Adult 20 years F 48 years +24h/d + + + 1 France
PubMed c.2045A>G exon 15 c.2045A>G Classic infantile Classic infantile <9 months F died at 12 months + + 1 Turkey
PubMed c.2051C>A exon 8 c.1309C>T Childhood Adult 19 years F 22 years/29 years 1 China
PubMed c.2051C>T second mutation is not reported Classic infantile <12 months + 0
PubMed c.2055C>A intron 1B c.-32-13T>G Childhood or Adult Adult 22 years M 22 years - - - 1 Caucasian
PubMed c.2055C>G second mutation is not reported/ Asian pseudodeficiency allele NBS NBS 1 Japan
PubMed c.2055C>G Asian pseudodeficiency allele NBS NBS 1 Japan
PubMed c.2056_2057delinsCC second mutation is not reported Classic infantile <12 months + 0
c.2061C>T unknown 0
c.2065G>A not disease-associated 0
PubMed c.2066_2070dup intron 1B c.-32-13T>G Childhood or Adult Adult 20 years M 36 years - - 1 Greece
PubMed c.2066_2070dup intron 1B c.-32-13T>G Childhood or Adult Adult middle age M - 1 Romanian
PubMed c.2066_2070dup intron 1B c.-32-13T>G Childhood or Adult Adult 37 years M 37 years - + + - + 1 Greece
PubMed c.2078dup exon 15 c.2078dup Classic infantile Classic infantile <10 months M 10 months + + 1 Iran
PubMed c.2078dup exon 15 c.2078dup Classic infantile Classic infantile 0-4.5 months M 4.5 months 1 Germany
PubMed c.2078dup intron 1B c.-32-13T>G Childhood or Adult Adult 27 years/25 years F/M 32 years/40 years - +/+ +/+ -/- 2 Iran
PubMed c.2078dup exon 15 c.2078dup Classic infantile Classic infantile 0 years 0,4 years + 1 Germany
PubMed c.2078dup exon 15 c.2078dup Classic infantile Classic infantile 0 months M 4 months + HCM + + (symmetric white matter lesions) 1 Germany (Turkish parents)
PubMed c.2078dup exon 15 c.2078dup Classic infantile Classic infantile <12 months + 0
PubMed c.2078dup intron 1B c.-32-13T>G Childhood or Adult Childhood 0,5 years M 3y 1 Poland
PubMed c.2084dup second mutation is not reported Childhood or Adult >12 years N.A. 1
PubMed c.2096T>C second mutation is not reported Classic infantile <12 months + 0
c.2097_2102del no combination/ no patient data reported 0
PubMed c.2104C>T intron 17 c.2481+102_2646+31del Classic infantile Classic infantile 3 months F 3-6 months + 1 Italy
PubMed c.2104C>T intron 1B c.-32-13T>G Childhood or Adult Childhood <6 years M unknown 1 Romanian
PubMed c.2104C>T intron 1B c.-32-13T>G Childhood or Adult asymptomatic asymptomatic F 25 years 1 France

The Pompe disease GAA variant database represents an effort to collect all known variants in the GAA gene and is maintained and provide by the Pompe center, Erasmus MC.

We kindly ask you to reference one of the following articles if you use this database for research purposes:

de Faria, DOS, in 't Groen, SLM, Bergsma, AJ, et al. Update of the Pompe variant database for the prediction of clinical phenotypes: Novel disease-associated variants, common sequence variants, and results from newborn screening.
Human Mutation. 2021; 42: 119-134. https://doi.org/10.1002/humu.24148

Niño, MY, in 't Groen, SLM, Hoogeveen-Westerveld, M, et al. Extension of the Pompe mutation database by linking disease‐associated variants to clinical severity. Human Mutation. 2019; 40: 1954–1967. https://doi.org/10.1002/humu.23854

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