Pompe disease GAA variant database
Displaying 1601 - 1650 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.1561G>C exon 4 c.784G>A Classic infantile Classic infantile at birth M 4 months + + 1 Brazil
PubMed c.1561G>A exon 11 c.1561G>A Classic infantile or Childhood Classic infantile unknown (2) unknown (2) 2 Indian
PubMed c.1561G>A exon 15 c.2140del Unknown (disease-associated) unknown at birth unknown 1 Caucasian
PubMed c.1561G>A intron 1B c.-32-13T>G Childhood or Adult Adult 40 years F 61 years - + 1 Caucasian
PubMed c.1561G>A intron 1B c.-32-13T>G Childhood or Adult Adult unknown F 58 years - - 1 Italy
PubMed c.1561G>A exon 16 c.2297A>G Childhood or adult Childhood 1,5 years F 1-30 years + + + + 1 Germany
PubMed c.1561G>A exon 15 c.2161G>T Unknown (disease-associated) Childhood 12 years F 24 years + + 1 China
PubMed c.1561G>A exon 11 c.1561G>A Classic infantile or Childhood Classic infantile <12 months + 0
PubMed c.1562A>T exon 13 c.1781G>A Childhood Childhood 5 years F unknown - 1 China
PubMed c.1562A>T exon 13 c.1781G>A Childhood Childhood 5 years F 22 years - 1 China
PubMed c.1562A>T intron 10 c.1551+2T>G Classic infantile Classic infantile ~3.4 months F ~4.9 months + + 1 Northern China
PubMed c.1562A>T Asian pseudodeficiency allele NBS NBS 1 Japan
PubMed c.1564C>G exon 4 c.784G>A Classic infantile Classic infantile <5 months F unknown + 1 Italy
PubMed c.1564C>G intron 1B c.-32-13T>G Childhood or Adult Adult 22 years F 34 years + + + + 1 Caucasian
PubMed c.1564C>G exon 14 c.1933G>A Classic infantile Classic infantile <12 months F unknown + 1 Italy
PubMed c.1564C>G intron 1B c.-32-13T>G Childhood or Adult Adult adult 71 years - 1 Italy
PubMed c.1564C>G intron 1B c.-32-13T>G Childhood or Adult Adult 36 years M 36 - 71 years + + + + + 1 Italy
PubMed c.1564C>G exon 11 c.1564C>G Classic infantile Classic infantile 4 months F 4 months + Tracheostomy + + (no sitting position) moderate periventricular white matter abnormalities 1 Italy
PubMed c.1564C>G exon 14 c.1933G>A Classic infantile Classic infantile 2 months F 3 months + - 1 Italy
PubMed c.1564C>G exon 11 c.1564C>G Classic infantile Classic infantile <12 months + 0
PubMed c.1564C>A intron 1B c.-32-13T>G Childhood or Adult Childhood 10 years unknown 1 Caucasian
c.1564C>T no combination/ no patient data reported 0
c.1568C>A no combination/ no patient data reported 0
PubMed c.1574T>A exon 19 c.2662G>T Classic infantile unknown unknown F NBS - 1 Taiwan
PubMed c.1574T>A exon 19 c.2662G>T Classic infantile unknown unknown F NBS - 1 Taiwan
PubMed c.1579_1580del exon 8 c.1316T>A Classic infantile Classic infantile 5 months F 9 months + + (hepatomegaly) - - 1 Korea
c.1581G>A not disease-associated 0
PubMed c.1582_1583del exon 8 c.1316T>A Classic infantile Classic infantile 5 months F 9 months +/Wolff-Parkinson-White syndrome 1 Korea
PubMed c.1583G>C second mutation is not reported Childhood <12 years - 0
PubMed c.1585_1586delinsGT second mutation is not reported Adult 28 years unknown 1 Japan
PubMed c.1585_1586delinsGT exon 11 c.1585_1586delinsGT Adult Adult unknown (2) unknown (2) 2 Japan
PubMed c.1585_1586delinsGT exon 14 c.1935C>A Classic infantile Adult unknown unknown 1 Japan
PubMed c.1591dup second mutation is not reported unknown <2 years/<2 years unknown (2) 2 Indian
PubMed c.1591dup second mutation is not reported Classic infantile <12 months + 1 Southern India
PubMed c.1594G>A second mutation is not reported Childhoor or Adult >12 years N.A. 0
PubMed c.1594G>A exon 14 c.1935C>A Classic infantile Adult 39 years M 43 years - + (BiPAP) + + (assistive device) - Aneurysm 1 Asian (Philippines)
PubMed c.1597T>G exon 19 c.2662G>T Classic infantile Classic infantile ~3.4 months M ~4.9 months + + 1 Northern China
PubMed c.1602_1605delinsAGG exon 4 c.796C>T Classic infantile Classic infantile ~3.4 months F ~4.9 months + + 1 Northern China
PubMed c.1610del second mutation is not reported Childhood/ Childhood or Adult <12 years, >12 years -, N.A. 0
PubMed c.1626C>G exon 11 c.1626C>G Unknown (disease-associated) Childhood or Adult unknown M 25 years 1 Italy
PubMed c.1627T>G second mutation is not reported Childhood 12 years M 31 years - + + 1 Algeria
PubMed c.1629C>G second mutation is not reported Childhood or Adult 1 France
PubMed c.1634C>T exon 2 c.525del Classic infantile Childhood first decade of life F died at 18 years + + 1 Netherlands
PubMed c.1634C>T exon 11 c.1634C>T Childhood or Adult Childhood 13 years unknown 1 South Africa
PubMed c.1634C>T exon 11 c.1634C>T Childhood or Adult Adult fourth decade of life F died at 51 years 1 Netherlands
PubMed c.1634C>T exon 12 c.1725C>A Unknown (disease-associated) Childhood 15 years F 20 years - + at night + + 1 Finland
PubMed c.1634C>T exon 19 c.2662G>T Classic infantile Adult 28 years M 32 years - 1 China
PubMed c.1634C>T exon 14 c.1993G>A Unknown (disease-associated) Adult 19 years M 20 years + + 1 China
PubMed c.1634C>T exon 14 c.1935C>A Classic infantile Childhood 11 M 21 + 1 Hong Kong
PubMed c.1636G>C second mutation is not reported Childhood <12 years - 0

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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