Pompe disease GAA variant database
Displaying 1801 - 1850 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.1798C>T exon 13 c.1798C>T Classic infantile Classic infantile unknown unknown 1 Japan
PubMed c.1798C>T exon 14 c.1979G>A Childhood Childhood unknown F 16 years - - 1 Japan
PubMed c.1798C>T exon 2 c.546G>T Childhood or Adult Childhood 12 years F 30 years + + + 1 Japan
PubMed c.1798C>T exon 2 c.546G>T Childhood or Adult Childhood 3 years M 9 years - - + 1 Japan
PubMed c.1798C>T exon 4 c.827_845del Classic infantile Classic Infantile 5 months F died at 1y,2m + + 1 China
PubMed c.1798C>T exon 15 c.2105G>T Classic infantile Classic infantile <1 year 9.5 months + - - 1 UK
PubMed c.1798C>T exon 13 c.1857C>G Classic infantile or Childhood Classic infantile (2) 10 months/1 month F/M +/+ +/- -/+ -/+ -/+ 2 Japan
PubMed c.1798C>T exon 8 c.1309C>T Childhood Childhood (3) <1 years/ 3 years/ 8 years F/NA/M -/NA/- -/NA/- -/NA/- -/NA/+ -/NA/+ 3 Japan
PubMed c.1798C>T intron 17 c.2481+1G>A Childhood Childhood <1 years M 1 Japan
PubMed c.1798C>T exon 2 c.546G>T Childhood or Adult Adult 28 years F 36 years - - - - - 1 Japan
PubMed c.1798C>T exon 2 c.525del Classic infantile Classic infantile <1 year 1 USA
PubMed c.1799G>A exon 3 c.655G>A Classic infantile Classic infantile 3.6 months M 4 months + + 1 France
PubMed c.1799G>A exon 14 c.1935C>A Classic infantile unknown unknown unknown 1 China
PubMed c.1799G>A intron 17 c.2481+102_2646+31del Classic infantile Classic infantile <3 months M <10 months + - 1 Netherlands
PubMed c.1799G>A intron 1B c.-32-13T>G Childhood or Adult Adult 28 years F 35 years - - - - 1 Iran
PubMed c.1799G>A intron 1B c.-32-13T>G Childhood or Adult Adult ranging 44 to 57 years 3 France
PubMed c.1799G>A exon 13 c.1799G>A Classic infantile Classic infantile <12 months + 0
PubMed c.1799G>A second mutation is not reported Classic infantile <12 months + 1 Southern India
PubMed c.1799G>A intron 1B c.-32-13T>G Childhood or Adult Adult 33 male 34 1 Dutch
PubMed c.1799G>A intron 1B c.-32-13T>G Childhood or Adult Adult 33 female 34 1 Dutch
PubMed c.1799G>A intron 1B c.-32-13T>G Childhood or Adult Adult 22 28 1 Unknown
PubMed c.1799G>A intron 1B c.-32-13T>G Childhood or Adult Adult 50 57 1 Unknown
PubMed c.1799G>A intron 1B c.-32-13T>G Childhood or Adult Adult 30 30 1 Unknown
PubMed c.1799G>C exon 13 c.1780C>T Unknown (disease-associated) Childhood 13 years M 18 years 1 China
PubMed c.1799G>T exon 14 c.1933G>A Classic infantile unknown <1 year unknown 1 French-Canadian/ Irish
PubMed c.1802C>A exon 2 c.525del Classic infantile Classic infantile <4 months F unknown + 1 UK
PubMed c.1802C>A exon 13 c.1802C>A Classic infantile Childhood or Adult 1 USA
PubMed c.1802C>G intron 1B c.-32-13T>G Childhood or Adult Adult 33 years F unknown - 1 Italy
PubMed c.1802C>G intron 19 c.2800-1G>C Classic infantile Classic infantile 10d M 3 + Tracheostomy + moderate periventricular white matter abnormalities 1 Italy
PubMed c.1802C>T exon 7 c.1099T>C/ Asian pseudodeficiency allele Classic infantile Classic infantile <6 months F 4.9 months + - 1 Hispanic
PubMed c.1802C>T intron 1B c.-32-13T>G Childhood or Adult Adult 27 years M unknown - FVC in sitting/ supine position 33/26% - + 1 Germany
PubMed c.1802C>T intron 1B c.-32-13T>G Childhood or Adult Childhood unknown unknown 1 Germany
PubMed c.1802C>T exon 7 c.1099T>C Classic infantile Classic infantile <1 year 1 USA
PubMed c.1802C>T exon 9 c.1432G>A Classic infantile Classic infantile ~3.4 months F ~4.9 months + + 1 Southern China
PubMed c.1802C>T exon 17 c.2411G>A Classic infantile Classic infantile ~3.4 months F ~4.9 months + + 1 Northern China
PubMed c.1802C>T exon 13 c.1844G>T Classic infantile Classic infantile ~3.4 months F ~4.9 months + + 1 Northern China
PubMed c.1802C>T exon 6 c.971dup Classic infantile Classic infantile ~3.4 months M ~4.9 months + + 1 Southern China
PubMed c.1802C>T exon 4 c.784G>A Classic infantile Classic infantile 2 months F 4 months + + + 1 Saudi Arabia
PubMed c.1802C>T exon 13 c.1802C>T Classic infantile Classic infantile 4 months F 8 months + + + + 1 Saudi Arabia
c.1804A>G no combination/ no patient data reported 0
PubMed c.1805C>T second mutation is not reported NBS NBS NBS 1 USA
PubMed c.1814G>A exon 13 c.1846G>A Unknown (disease-associated) Childhood 6 years M 17 years - FVC: reduced to 41.0% - + 1 Japan
PubMed c.1819_1836del intron 1B c.-32-13T>G Childhood or Adult Adult 43 years F 54 years - + + + - 1 France
PubMed c.1819_1836del second mutation is not reported Classic infantile <12 months + 1 Southern India
PubMed c.1820G>A exon 13 c.1820G>A Classic infantile Classic infantile <1 year <1.5 years + 1 Indian
PubMed c.1820G>A second mutation is not reported Classic infantile <12 months + 1 Southern India
PubMed c.1822C>T exon 5 c.953T>A Childhood Childhood or Adult unknown >10 years - 1 USA
PubMed c.1822C>T exon 8 c.1309C>T Childhood Childhood 15 months M 2,7 years - + 1 Korea
PubMed c.1822C>T exon 16 c.2238G>C Childhood or Adult Adult 41 years M 41 years - + + 1 South Korea
PubMed c.1822C>T exon 13 c.1822C>T Classic infantile Classic infantile 4 months F + + - + 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

www.pompecenter.nl