Pompe disease GAA variant database
Displaying 1751 - 1800 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.1721T>C second mutation is not reported Childhood or Adult >12 years N.A. 1
PubMed c.1724A>C intron 1B c.-32-13T>G Childhood or Adult Childhood 3 years unknown 1 Swiss/ Ecuadorian
c.1724A>G no combination/ no patient data reported 0
PubMed c.1725C>A exon 11 c.1634C>T Childhood or Adult Childhood 15 years F 20 years - + at night + + 1 Finland
c.1726G>A not disease-associated 0
c.1727G>A no combination/ no patient data reported 0
PubMed c.1735G>A exon 2 c.525del Classic infantile Classic infantile <1 year <1.5 years + 1 Australian
PubMed c.1735G>A exon 3 c.655G>A Classic infantile Classic infantile <6 months M 5.5 months + 1 Caucasian
PubMed c.1735G>A exon 13 c.1857C>G Classic infantile or Childhood Childhood 2 years M 12 years mild cardiac hypertrophy - + + 1 Japan
PubMed c.1735G>A exon 13 c.1857C>G Classic infantile or Childhood Childhood 2 years M 20 years - - + + + 1 Japan
PubMed c.1735G>A second mutation is not reported Adult 20 years F 1 China
PubMed c.1748C>T exon 14 c.2014C>T Childhood or Adult Childhood or Adult unknown >10 years - 1 USA
PubMed c.1753_2799del exon 12 c.1753_2799del Classic infantile Classic infantile 2d M 2w + + + + 1 Saudi Arabia
PubMed c.1754G>T intron 1B c.-32-13T>G Childhood or Adult Adult 36 years M 51 years - + at night + + - 1 France
PubMed c.1754G>A exon 18 c.2560C>T Classic infantile Childhood or Adult unknown >10 years - 1 USA
PubMed c.1754+1G>A second mutation is not reported unknown <2 years unknown 1 unknown
PubMed c.1754+1G>A exon 4 c.722_723del Classic infantile Classic infantile <6 months 6 months + - - 1 Caucasian
PubMed c.1754+1G>A exon 4 c.722_723del Classic infantile Classic infantile <1 year 1 USA
PubMed c.1754+1dup intron 1B c.-32-13T>G Childhood or Adult Adult 41 years M 51 years Bent spine syndrome 1 France
PubMed c.1754+1dup second mutation is not reported Childhood or Adult 1 France
PubMed c.1754+1dup second mutation is not reported Childhood or Adult >12 years N.A. 1
PubMed c.1754+2T>A second mutation is not reported unknown <2 years unknown 1 unknown
PubMed c.1754+2T>C second mutation is not reported Childhood <12 years - 0
c.1754+12G>A not disease-associated 0
c.1754+100C>T not disease-associated 0
c.1754+104C>G not disease-associated 0
c.1754+144C>T not disease-associated 0
c.1755-186A>G not disease-associated 0
c.1754+16C>T unknown 0
PubMed c.1755-1G>A intron 10 c.1551+1G>C Classic infantile Classic infantile 3 months M died at 6 months + + + 1 Spain
PubMed c.1755-1G>A intron 1B c.-32-13T>G Childhood or Adult asymptomatic asymptomatic F 20 years - - - - - - - - - 1 Caucasian
PubMed c.1760T>C exon 19 c.2662G>T Classic infantile Classic infantile at birth F died at 1y,5m + 1 China
PubMed c.1771C>T second mutation is not reported Childhood or Adult >1 year unknown 1 Italy
PubMed c.1776del intron 1B c.-32-13T>G Childhood or Adult Childhood or Adult unknown M 40 years 1 Italy
PubMed c.1780C>T exon 13 c.1799G>C Unknown (disease-associated) Childhood 13 years M 18 years 1 China
PubMed c.1781G>C exon 14 c.1941C>G Classic infantile Adult 27 years/31 years M/ M 33 years/40 years -/- -/+ 2 Brazil
PubMed c.1781G>C exon 2 c.525del Classic infantile Childhood or Adult 1 USA
PubMed c.1781G>A exon 11 c.1562A>T Unknown (disease-associated) Childhood 5 years F 22 years - 1 China
PubMed c.1781G>A exon 11 c.1562A>T Classic infantile Childhood 5 years F unknown - - 1 China
PubMed c.1781G>A exon 7 c.1190C>T Unknown (disease-associated) Childhood 9 years F 11 years 1 France
PubMed c.1784C>T exon 13 c.1784C>T Unknown (disease-associated) Childhood 3 years F 12 years - + + - + 1 Turkey
PubMed c.1796C>A exon 3 c.655G>A Classic infantile unknown prenatal died + 1 Italy
PubMed c.1796C>A intron 1B c.-32-13T>G Childhood or Adult Childhood Juvenile 1 USA
PubMed c.1796C>T exon 2 c.364A>G Unknown (disease-associated) Childhood (1)/ Adult (1) 27 years/6 years M/ F 29 years/31 years -/- MRI:mild/MRI:moderate 2 Poland
PubMed c.1796C>T exon 2 c.364A>G Unknown (disease-associated) Childhood/ Adult 6 years / 27 years F /M 33 years / 30 years 2 Poland
PubMed c.1796C>T intron 1B c.-32-13T>G Childhood or Adult Childhood or Adult Adult 1 USA
PubMed c.1798C>T exon 2 c.525del Classic infantile Childhood <1 year M died at 14 years + at 1y 1 Netherlands
PubMed c.1798C>T exon 5 c.872T>C Classic infantile Classic infantile 4 months died 1 Taiwan
PubMed c.1798C>T exon 8 c.1211A>G Classic infantile Classic Infantile 5 months M 6 months + 1 Caucasian
PubMed c.1798C>T exon 8 c.1316T>A Classic infantile Childhood 4 years M died at 29 years + + + 1 Japan

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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