Pompe disease GAA variant database
Displaying 1351 - 1400 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.1249A>C Unknown Adult 57 years M - - - 1 Spain
PubMed c.1256A>T intron 10 c.1551+1G>T Unknown (disease-associated) Childhood unknown F 1.3 years 1 Greece
PubMed c.1280T>C exon 14 c.2012T>A Unknown (disease-associated) childhood 3 months F 1.5 years + 1 China
PubMed c.1281G>T second mutation is not reported Classic infantile <12 months + 0
c.1286A>G no combination/ no patient data reported 0
PubMed c.1291_1299del intron 1B c.-32-13T>G Childhood or Adult Adult 23 years/29 years M/ F 58 years/71 years - FVC in sitting/ supine position 76/68% / 101/81% +/- 2 Germany
PubMed c.1292_1295dup exon 18 c.2560C>T Classic infantile Classic infantile <1 year 1 USA
PubMed c.1293_1326+57del second mutation is not reported Childhood or Adult 1 France
PubMed c.1293_1312del intron 1B c.-32-13T>G Childhood or Adult Adult unknown unknown 1 unknown
PubMed c.1293_1312del exon 12 c.1716C>G Classic infantile Classic infantile <1 year 1 USA
PubMed c.1297C>A intron 1B c.-32-13T>G Childhood or Adult Childhood 10 years F 28 years - + 1 Caucasian
PubMed c.1297C>A intron 1B c.-32-13T>G Childhood or Adult Childhood 10 years F 31 years - + 1 Caucasian
PubMed c.1298A>C exon 19 c.2662G>T Classic infantile Classic infantile ~3.4 months M ~4.9 months + + 1 Northern China
PubMed c.1309C>T exon 4 c.796C>T Classic infantile Childhood 8 years M 14 years - 1 China
PubMed c.1309C>T exon 7 c.1082C>T Classic infantile Childhood (1)/ unknown (1) early childhood/asymptomatic M/ M 16 years/13 years -/- + at night/- +/- +/- +/- 2 China
PubMed c.1309C>T exon 16 c.2326C>T Unknown (disease-associated) Childhood <7 years/<7 years F/ F 11 years/10 years + at night/+ at night +/+ -/- +/+ +/+ 2 Japan
PubMed c.1309C>T exon 8 c.1309C>T Childhood Adult 20 years M 30 years - + + + 1 Japan
PubMed c.1309C>T exon 10 c.1544T>A Unknown (disease-associated) Adult 18 years M 23 years incomplete right bundle branch block + at night + - - 1 Japan
PubMed c.1309C>T exon 13 c.1822C>T Classic infantile Childhood 15 months M 2,7 years - + 1 Korea
PubMed c.1309C>T exon 4 c.796C>T Classic infantile Childhood 8 years M unknown + 1 China
PubMed c.1309C>T exon 15 c.2177C>G Childhood Childhood 1-2 years and 4 months F 2 years,4 months - + - - 1 Japan
PubMed c.1309C>T exon 13 c.1798C>T Classic infantile Childhood (3) <1 years/ 3 years/ 8 years F/NA/M -/NA/- -/NA/- -/NA/- -/NA/+ -/NA/+ 3 Japan
PubMed c.1309C>T exon 16 c.2297A>G Childhood or adult Childhood 14 years M 21 years - - + + - 1 Japan
PubMed c.1309C>T exon 13 c.1857C>G Classic infantile or Childhood Adult 19 years F + + + + + 1 Japan
PubMed c.1309C>T exon 15 c.2051C>A Unknown (disease-associated) Adult 19 years F 22 years/29 years 1 China
PubMed c.1309C>T exon 7 c.1082C>T Classic infantile Childhood 6 years/10 years M/M 9 years/15 years -/+ -/+ 2 Hong Kong
PubMed c.1309C>T exon 16 c.2238G>C Childhood or Adult Childhood 16 years M 26 years - - 1 Hong Kong
PubMed c.1309C>T exon 15 c.2177C>G Childhood Childhood 1 years F - + - - - 1 Japan
PubMed c.1309C>T exon 13 c.1822C>T Classic infantile Childhood 1 years M 2 y, 9 m - + (hepatomegaly) + (tracheostomy at 5 y, 7 m) + + (at 6y, 2m) Limb girdle weakness + 1 Korea
PubMed c.1310G>A second mutation is not reported asymptomatic asymptomatic 19 years - - - - - - - - - - 1 Brazil
PubMed c.1311_1312ins(26) second mutation is not reported Classic infantile <12 months + 0
PubMed c.1316T>A exon 4 c.796C>T Classic infantile Childhood 9 years M 15 years + at night + + 1 Korea
PubMed c.1316T>A exon 13 c.1798C>T Classic infantile Childhood 4 years M died at 29 years + + + 1 Japan
PubMed c.1316T>A second mutation is not reported Childhood 8 months F died at 7 years + + + + 1 Korea
PubMed c.1316T>A exon 11 c.1582_1583del Classic infantile Classic infantile 5 months F 9 months +/Wolff-Parkinson-White syndrome 1 Korea
PubMed c.1316T>A second mutation is not reported Adult 35 years F 49 years + at night + - - 1 Korea
PubMed c.1316T>A exon 17 c.2407_2412del Childhood Childhood 1-6 months F 3.8-5.5 years + + 1 Korea
PubMed c.1316T>A exon 4 c.796C>T Classic infantile Childhood 9 years M 11 years - 1 Korea
PubMed c.1316T>A exon 2 c.546G>T Childhood or Adult Childhood 10 years M 15 years - - - 1 South Korea
PubMed c.1316T>A exon 8 c.1316T>A Classic infantile Childhood 12 years M 22 years - - + + - 1 Japan
PubMed c.1316T>A Asian pseudodeficiency allele NBS NBS 4 Japan
PubMed c.1316T>A exon 11 c.1579_1580del Classic infantile Classic infantile 5 months F 9 months + + (hepatomegaly) - - 1 Korea
PubMed c.1320_1322del exon 16 c.2238G>C Childhood or Adult Childhood 15 years F 25 years + + 1 China
PubMed c.1320_1322del exon 18 c.2560C>T Classic infantile Classic infantile ~3.4 months F ~4.9 months + + 1 Northern China
PubMed c.1322_1326+9del exon 15 c.2171C>A Classic infantile Classic infantile 3 months F 8 months + + 1 Korea
PubMed c.1322_1326+9del exon 15 c.2171C>A Classic infantile Classic infantile 5 months F 9 months + + (hepatomegaly) + (at 1 y) + 1 Korea
PubMed c.1324G>A exon 13 c.1843G>A/ Asian pseudodeficiency allele Classic infantile unknown unknown M NBS - 1 Taiwan
PubMed c.1326+1G>A exon 11 c.1555A>G Classic infantile Classic infantile unknown 23 months 1 African American
PubMed c.1326+1G>A exon 10 c.1441T>C Classic infantile Classic infantile unknown unknown 1 African American
c.1326+5G>A no combination/ no patient data reported 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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