Pompe disease GAA variant database
Displaying 801 - 850 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.525del intron 1B c.-32-13T>G Childhood or Adult Adult 33 43 1 Unknown
PubMed c.525del intron 1B c.-32-13T>G Childhood or Adult Adult 35 35 1 Unknown
PubMed c.525del intron 1B c.-32-13T>G Childhood or Adult Childhood 15 25 1 Unknown
PubMed c.525del intron 1B c.-32-13T>G Childhood or Adult Adult 32 27 1 Unknown
PubMed c.525del intron 1B c.-32-13T>G Childhood or Adult Childhood 15 42 1 Unknown
PubMed c.525del intron 1B c.-32-13T>G Childhood or Adult Adult 31 36 1 Unknown
PubMed c.525del intron 1B c.-32-13T>G Childhood or Adult Adult 29 42 1 Unknown
PubMed c.525del intron 1B c.-32-13T>G Childhood or Adult Adult 18 20 1 Unknown
PubMed c.525del intron 1B c.-32-13T>G Childhood or Adult Adult 30 63 1 Unknown
PubMed c.525del intron 1B c.-32-13T>G Childhood or Adult Adult 37 37 1 Unknown
PubMed c.525del intron 1B c.-32-13T>G Childhood or Adult Adult 39 40 1 Unknown
PubMed c.525del intron 1B c.-32-13T>G Childhood or Adult Adult 37 41 1 Unknown
PubMed c.525del intron 1B c.-32-13T>G Childhood or Adult Adult 32 35 1 Unknown
PubMed c.525del intron 1B c.-32-13T>G Childhood or Adult Adult 39 54 1 Unknown
PubMed c.525del intron 1B c.-32-13T>G Childhood or Adult Adult 20 24 1 Unknown
PubMed c.525del intron 1B c.-32-13T>G Childhood or Adult Adult 31 49 1 Unknown
PubMed c.525del intron 1B c.-32-13T>G Childhood or Adult Adult 36 62 1 Unknown
PubMed c.525del intron 1B c.-32-13T>G Childhood or Adult Adult 42 57 1 Unknown
PubMed c.525del intron 1B c.-32-13T>G Childhood or Adult Childhood 11 35 1 Unknown
PubMed c.525del intron 1B c.-32-13T>G Childhood or Adult Adult 26 37 1 Unknown
PubMed c.525del intron 1B c.-32-13T>G Childhood or Adult Adult 30 19 1 Unknown
PubMed c.525del intron 1B c.-32-13T>G Childhood or Adult Adult 55 68 1 Unknown
PubMed c.525del intron 1B c.-32-13T>G Childhood or Adult Adult 35 53 1 Unknown
PubMed c.525del intron 1B c.-32-13T>G Childhood or Adult Adult 40 47 1 Unknown
PubMed c.525del intron 1B c.-32-13T>G Childhood or Adult Adult 43 49 1 Unknown
PubMed c.525del intron 1B c.-32-13T>G Childhood or Adult Adult 51 59 1 Unknown
PubMed c.525del intron 1B c.-32-13T>G Childhood or Adult Childhood 3 28 1 Unknown
PubMed c.525_526del exon 2 c.525_526del Classic infantile Classic infantile at birth 13 months + + + - 1 Germany
PubMed c.525_526del exon 2 c.525_526del Classic infantile Classic infantile <5.5 months F 6.5 months + + at night 1 Asian
PubMed c.525_526del exon 12 c.1655T>C Classic infantile Classic infantile 0-19 months F 19 months 1 Germany
PubMed c.525_526del exon 2 c.525_526del Classic infantile Classic infantile <12 months + 0
PubMed c.525_526del intron 1B c.-32-13T>G Childhood or Adult Adult 42 years M 45 years + + (BiPAP) + + (assistive device) + 1 Caucasian
c.532C>T unknown 0
PubMed c.533G>A exon 2 c.424_440del/ Asian pseudodeficiency allele Unknown (found only in NBS) unknown unknown F NBS - 1 Taiwan
PubMed c.533G>A exon 2 c.533G>A Unknown (found only in NBS) NBS NBS F NBS 1 Italy
PubMed c.541_545del second mutation is not reported Classic infantile <12 months + 0
PubMed c.546G>A exon 2 c.525del Classic infantile Adult 65 years 68 years 1 UK
PubMed c.546G>A intron 14 c.2041-1G>A Unknown (disease-associated) Childhood or Adult unknown >10 years - 1 USA
PubMed c.546G>A exon 4 c.736del Unknown (disease-associated) Adult 70 years M 70 years 1 USA
PubMed c.546G>T exon 13 c.1798C>T Classic infantile Childhood 3 years M 9 years - - + 1 Japan
PubMed c.546G>T exon 2 c.546G>T Childhood or Adult Adult 41 years/35 years M/ F 44 years/62 years -/+ -/+ -/+ +/+ 2 Japan
PubMed c.546G>T exon 13 c.1798C>T Classic infantile Childhood 12 years F 30 years + + + + 1 Japan
PubMed c.546G>T exon 15 c.2171C>A Classic infantile Childhood 17 years unknown - - - - - + 1 Korea
PubMed c.546G>T exon 2 c.546G>T Childhood or Adult Adult 32 years F 57 years + mild + 1 Japan
PubMed c.546G>T exon 2 c.546G>T Childhood or Adult Childhood (1)/ Adult (4) 40/42/2,5/70/30 years M/F/M/M/F - /-/NA/-/- -/-/-/-/- +/-/+/-/- +/-/+/-/- -/-/NA/-/- 5 Japan
PubMed c.546G>T exon 13 c.1798C>T Classic infantile Adult 28 years F 36 years - - - - - 1 Japan
PubMed c.546G>T exon 7 c.1099T>C Classic infantile Adult 72 years M - - + + - 1 Japan
PubMed c.546G>T exon 4 c.796C>T Classic infantile Childhood/ Adult 23 years M 30 years NA/- +/ - NA/- NA/+ NA/+ 2 Japan
PubMed c.546G>T exon 2 c.118C>T Classic infantile Childhood 1 years F - - - - - 1 Japan
PubMed c.546G>T exon 8 c.1316T>A Classic infantile Childhood 10 years M 15 years - - - 1 South Korea

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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