Pompe disease GAA variant database
Displaying 1251 - 1300 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.1115A>T exon 18 c.2563G>C Classic infantile Classic infantile ~3.4 months M ~4.9 months + + 1 Northern China
PubMed c.1115A>T intron 1B c.-32-13T>G Childhood or Adult Adult 29 36 1 Unknown
PubMed c.1115A>T intron 1B c.-32-13T>G Childhood or Adult Adult 34 34 1 Unknown
PubMed c.1115A>T intron 1B c.-32-13T>G Childhood or Adult Adult 53 60 1 Unknown
PubMed c.1118T>G second mutation is not reported unknown <2 years unknown 1 unknown
PubMed c.1120T>C exon 6 c.1064T>C Classic infantile or Childhood Classic infantile <1 year <1.5 years + 1 Turkey
PubMed c.1121G>A second mutation is not reported Childhood or Adult >12 years N.A. 1
PubMed c.1124G>T exon 4 c.784G>A Classic infantile Classic infantile <4 months F unknown + 1 Italy
PubMed c.1124G>T exon 7 c.1124G>T Classic infantile Classic infantile <10 months F unknown + 1 Italy
PubMed c.1124G>T intron 1B c.-32-13T>G Childhood or Adult Adult early adult (5)/adult (2)/childhood (1) 40/47/50/45/42/33/45 years/NA -/-/-/-/-/-/-/+ +/+/-/-/-/-/-/+ 8 Italy
PubMed c.1124G>T intron 1B c.-32-13T>G Childhood or Adult Adult F 61 years 1 USA
PubMed c.1124G>T exon 13 c.1833_1847delinsACGGGGTAT Classic infantile Classic infantile 1 months F 5 months + - 1 Italy
PubMed c.1124G>T exon 7 c.1124G>T Classic infantile Classic infantile 0 months M 2 months + 1 Italy
PubMed c.1124G>T second mutation is not reported Classic infantile <12 months + 1 Northern India
PubMed c.1124G>A exon 9 c.1375G>A/ Asian pseudodeficiency allele Unknown (disease-associated) unknown unknown >10 years - 1 Asian
PubMed c.1124G>A Asian pseudodeficiency allele NBS NBS 1 Japan
PubMed c.1127_1130del second mutation is not reported Childhood <12 years - 1
PubMed c.1128_1129delinsC exon 5 c.885C>G Adult Adult unknown 65 years 1 Germany
PubMed c.1128_1129delinsC exon 16 c.2237G>A Classic infantile Classic infantile <12 days F 36 months + - 1 Caucasian
PubMed c.1128_1129delinsC exon 9 c.1370C>T Childhood Childhood 1.5 years M 5.5 years - FVC in sitting/ supine position 32/27% - - 1 Germany
PubMed c.1129G>C exon 18 c.2560C>T Classic infantile Classic infantile 2 months M died at 33.8 months + - - 1 Caucasian
PubMed c.1129G>C exon 18 c.2560C>T Classic infantile Classic infantile <1 year 1 USA
PubMed c.1129G>A exon 18 c.2495_2496del Classic infantile Childhood 3 years/ 3 years F/ M 11 years/ 17 years 2 Poland
PubMed c.1129G>A second mutation is not reported Childhood <12 years - 1
c.1134C>G no combination/ no patient data reported 0
PubMed c.1134C>G exon 10 c.1478C>T Adult Childhood 12,5 years F 13 years 1 Austria
PubMed c.1134C>G intron 1B c.-32-13T>G Childhood or Adult Childhood 15 years M 23 y - + (BiPAP) + + (assistive device) - 1 Caucasian
PubMed c.1143del intron 1B c.-32-13T>G Childhood or Adult Adult 43 years/63 years M/ M 48 years/65 years -/- -/- 2 USA
PubMed c.1143del intron 1B c.-32-13T>G Childhood or Adult Childhood Juvenile 1 USA
PubMed c.1143del intron 1B c.-32-13T>G Childhood or Adult Childhood or Adult Adult 2 USA
PubMed c.1143del intron 1B c.-32-13T>G Childhood or Adult Adult M 68 years 1 USA
PubMed c.1143del intron 1B c.-32-13T>G Childhood or Adult Childhood/ Adult 4 years/48 years F/M - - /Orthopnea 2 Portugal
PubMed c.1153del intron 1B c.-32-13T>G Childhood or Adult Childhood/ Adult 4 years/48 years F/M - - /Orthopnea 2 Portugal
PubMed c.1156C>T exon 13 c.1857C>G Classic infantile or Childhood Childhood 4-10 months M 4.9 years + + 1 Korea
PubMed c.1156C>T exon 16 c.2238G>C Childhood or Adult Childhood 5 years F 17 y, 5 m - + (hepatomegaly) - - Limb girdle weakness + 1 Korea
PubMed c.1157dup exon 7 c.1157dup Classic infantile Classic infantile 1 month F 44 months + - 1 Turkey
PubMed c.1157dup exon 7 c.1157dup Classic infantile Classic infantile 0-1.5 months F 1.5 months 1 Germany
PubMed c.1165del exon 18 c.2560C>T Classic infantile unknown <2 years unknown 1 unknown
PubMed c.1171A>G second mutation is not reported asymptomatic asymptomatic 23 years - - - - - - - - - - 1 Brazil
c.1190C>T no combination/ no patient data reported 0
PubMed c.1190C>T exon 13 c.1781G>A Childhood Childhood 9 years F 11 years 1 France
PubMed c.1190C>T Asian pseudodeficiency allele NBS NBS 1 Japan
PubMed c.1192dup intron 1B c.-32-13T>G Childhood or Adult Adult 31 years unknown 1 Spain
PubMed c.1192del exon 19 c.2716G>A Unknown (disease-associated) Adult young adult M + - 1 Caucasian
PubMed c.1193del second mutation is not reported Childhood or Adult 1 France
PubMed c.1193del second mutation is not reported Childhoor or Adult >12 years N.A. 0
PubMed c.1194+2T>A intron 1B c.-32-13T>G Childhood or Adult Childhood <4 years M unknown 1 Italy
PubMed c.1194+2T>C exon 14 c.1935C>A Classic infantile Classic infantile <1 month died 1 Taiwan
PubMed c.1194+5G>A intron 7 c.1194+5G>A Unknown (disease-associated) Adult 38 years F 61 years - + (CPAP during the night) + + + 1 Spain
c.1195-44C>T unknown 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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