Pompe disease GAA variant database
Displaying 1851 - 1900 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.1822C>T second mutation is not reported Childhood 11 F - - + + + 1 Japan
PubMed c.1822C>T exon 4 c.784G>A Classic infantile Classic infantile 2 months F 3 months + Tracheostomy + 1 Italy
PubMed c.1822C>T exon 5 c.875A>G Classic infantile Classic infantile 1 months M 2 m + - + (at 1 M) + (at 1 M) + (at 5 m) + 1 Korea
PubMed c.1822C>T exon 8 c.1309C>T Childhood 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.1822del second mutation is not reported Childhood or Adult >12 years N.A. 1
PubMed c.1824_1828dup exon 13 c.1824_1828dup Classic infantile Classic infantile 1 month M 5 months + + + 1 Iran
PubMed c.1825T>G second mutation is not reported Childhood or Adult 1 France
PubMed c.1825T>G second mutation is not reported Childhood or Adult >12 years N.A. 1
PubMed c.1826dup exon 2 c.525del Classic infantile Classic infantile <1 year <1.5 years + 1 Netherlands
PubMed c.1826dup intron 1B c.-32-13T>G Childhood or Adult Adult 35 years F 45 years - - - - 1 USA
PubMed c.1826dup exon 2 c.2T>C Childhood Childhood 16 months M + - NA NA NA 1 Japan
PubMed c.1826dup exon 16 c.2238G>A Classic infantile Classic infantile <1 year 1 USA
PubMed c.1827del intron 1B c.-32-13T>G Childhood or Adult Adult >20 years unknown 1 Australian
PubMed c.1827del intron 1B c.-32-13T>G Childhood or Adult Childhood or Adult Adult 1 USA
PubMed c.1827del intron 1B c.-32-13T>G Childhood or Adult Adult M 36 years 1 USA
PubMed c.1827C>G exon 10 c.1465G>T Classic infantile Classic infantile 3 months M died at <18.7 months + + 1 Northern China
PubMed c.1829C>T exon 14 c.1912G>T Classic infantile Childhood 3 years F 7 years + + - - 1 Caucasian
PubMed c.1829C>T exon 14 c.1912G>T Classic infantile Childhood or Adult unknown >10 years - 1 USA
c.1830C>T unknown 0
PubMed c.1832G>A exon 13 c.1832G>A Unknown (disease-associated) Childhood 1 year 5 years + 1 Brazil
PubMed c.1832G>A second mutation is not reported unknown <2 years unknown 1 unknown
PubMed c.1833_1847delinsACGGGGTAT intron 1B c.-32-13T>G Childhood or Adult Childhood <17 years F unknown 1 Italy
PubMed c.1833_1847delinsACGGGGTAT exon 13 c.1833_1847delinsACGGGGTAT Classic infantile Classic infantile <6 months M 3 years + 1 Italy
PubMed c.1833_1847delinsACGGGGTAT exon 7 c.1124G>T Classic infantile Classic infantile 1 months F 5 months + - 1 Italy
PubMed c.1833_1847delinsACGGGGTAT exon 13 c.1833_1847delinsACGGGGTAT Classic infantile Classic infantile 2 months M 7 months + Tracheostomy + 1 Italy
PubMed c.1833_1847delinsACGGGGTAT exon 13 c.1833_1847delinsACGGGGTAT Classic infantile Classic infantile 2 months M 7 months + Tracheostomy + 1 Italy
PubMed c.1834C>T exon 18 c.2560C>T Classic infantile Classic infantile 3 months M 8 months + + 1 Brazil
PubMed c.1835A>C intron 1B c.-32-13T>G Childhood or Adult Childhood or Adult Adult 1 USA
PubMed c.1835A>G second mutation is not reported Childhood <12 years - 0
PubMed c.1836C>G intron 1B c.-32-13T>G Childhood or Adult Adult adulthood F unknown 1 Italy
PubMed c.1837T>G exon 13 c.1837T>G Unknown (disease-associated) Childhood 10 years /10 years M/F 12 years/15 years - -/- -/- -/- 2 Iran
PubMed c.1839G>C second mutation is not reported Childhood <12 years - 1
PubMed c.1840A>G exon 2 c.424_440del Unknown (found only in NBS) NBS NBS 1 Taiwan
PubMed c.1841C>A intron 6 c.1076-22T>G Childhood Childhood or Adult unknown >10 years - 1 USA
PubMed c.1841C>A intron 1B c.-32-13T>G Childhood or Adult Adult F 53 years 1 USA
PubMed c.1841C>A intron 1B c.-32-13T>G Childhood or Adult Adult 35 years M Atrial fibrilation - 1 Welsh/English/Caucasian
PubMed c.1843G>A exon 8 c.1324G>A/ Asian pseudodeficiency allele Unknown (found only in NBS) unknown unknown M NBS - 1 Taiwan
PubMed c.1843G>A exon 9 c.1411_1414del Classic infantile unknown unknown unknown 1 China
PubMed c.1843G>A exon 14 c.1935C>A Classic infantile unknown unknown unknown 1 China
PubMed c.1843G>A exon 14 c.1935C>A Classic infantile Childhood unknown unknown 1 Taiwan
PubMed c.1843G>A exon 14 c.1935C>A Classic infantile Classic infantile 4 months died 1 Taiwan
PubMed c.1843G>A second mutation is not reported Adult unknown unknown 1 Taiwan
PubMed c.1843G>A exon 16 c.2238G>A Classic infantile Classic infantile 1.6 months M 4.6 months + - - 1 Asian
PubMed c.1843G>A intron 1B c.-32-13T>G Childhood or Adult Childhood 12 years 20 years + 1 Germany
PubMed c.1843G>A exon 16 c.2238G>A Classic infantile Classic infantile <1 year 1 USA
PubMed c.1843G>A exon 13 c.1843G>A Classic infantile Classic infantile <12 months + 0
PubMed c.1843G>A exon 13 c.1843G>A Classic infantile Childhood? <12 years + 0
PubMed c.1844_1846del intron 1B c.-32-13T>G Childhood or Adult Childhood 16 years M 49 years 1 France
PubMed c.1844G>T exon 13 c.1802C>T Classic infantile Classic infantile ~3.4 months F ~4.9 months + + 1 Northern China
PubMed c.1844G>A exon 13 c.1844G>A Classic infantile Classic infantile <12 months + 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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