Pompe disease GAA variant database
Displaying 2001 - 2050 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.1933G>C exon 14 c.1935C>A Classic infantile Classic infantile 1 months 1m + + + 1 Thailand
PubMed c.1933G>C exon 9 c.1411_1414del Classic infantile Classic infantile 3 months 5 months + + 1 Thailand
PubMed c.1933G>A exon 11 c.1564C>G Classic infantile Classic infantile <12 months F unknown + 1 Italy
PubMed c.1933G>A exon 13 c.1799G>T Classic infantile unknown <1 year unknown 1 French-Canadian/ Irish
PubMed c.1933G>A exon 16 c.2242dup Classic infantile Classic infantile unknown unknown 1 Celtic
PubMed c.1933G>A exon 19 c.2702T>A Childhood Childhood 8 months M 6 years + mild LVH - + + 1 Germany
PubMed c.1933G>A exon 14 c.1933G>A Classic infantile Classic infantile 0.4 months M 3.1 months + - - 1 Asian Indian
PubMed c.1933G>A exon 14 c.1933G>A Classic infantile Classic infantile <1 year unknown 1 Indian
PubMed c.1933G>A exon 14 c.1933G>A Classic infantile Classic infantile at birth F 2 days + 1 Italy
PubMed c.1933G>A exon 18 c.2501_2502del Classic infantile Classic infantile <2.5 months M 3 months + - - 1 Hispanic
PubMed c.1933G>A exon 14 c.1933G>A Classic infantile Classic infantile 1 year and 3 months M died at 2 years + - 1 Italy
PubMed c.1933G>A exon 14 c.1933G>A Classic infantile Classic infantile <1 year 2 USA
PubMed c.1933G>A exon 14 c.1933G>A Classic infantile Classic infantile <1 year 2 USA
PubMed c.1933G>A exon 4 c.794del Classic infantile Classic infantile at birth 1 month + 1 Germany
PubMed c.1933G>A exon 4 c.794del Classic infantile Classic infantile 0-1.5 months F 1.5 months + motor delay 1m 1 Germany
PubMed c.1933G>A exon 18 c.2584G>A Childhood Childhood 5 years F 5 years 1 France
PubMed c.1933G>A exon 14 c.1933G>A Classic infantile Classic infantile birth F 1 month + - moderate periventricular white matter abnormalities 1 Italy
PubMed c.1933G>A exon 11 c.1564C>G Classic infantile Classic infantile 2 months F 3 months + - 1 Italy
PubMed c.1933G>A exon 14 c.1933G>A Classic infantile Classic infantile <12 months + 0
PubMed c.1933G>A exon 14 c.1933G>A Classic infantile Childhood? <12 years + 0
PubMed c.1933G>A intron 1B c.[-32-13T>G; c.510C>T] Childhood or Adult Childhood 13 14.056125941136 1 Unknown
PubMed c.1933G>T intron 1B c.-32-13T>G Childhood or Adult Adult 30 years unknown 1 Spain
PubMed c.1935C>A exon 14 c.1935C>A Classic infantile Classic infantile unknown F/ F/ F unknown +/+/+ 3 Thai
PubMed c.1935C>A exon 4 c.[752C>T; 761C>T]/ Asian pseudodeficiency allele Unknown (disease-associated) Childhood (1)/ unknown (2) 14-34 months/unknown (2) M/ F/ M NBS - 3 Taiwan
PubMed c.1935C>A exon 4 c.784G>A/ Asian pseudodeficiency allele Classic infantile Classic infantile <1 month M NBS + 1 Taiwan
PubMed c.1935C>A exon 5 c.872T>C Classic infantile Classic infantile unknown NBS 1 Taiwan
PubMed c.1935C>A exon 6 c.988T>G Classic infantile Classic infantile 1 month F 6 months + + 1 China
PubMed c.1935C>A exon 6 c.1062C>G/ Asian pseudodeficiency allele Classic infantile Classic infantile <1 month M NBS + 1 Taiwan
PubMed c.1935C>A intron 7 c.1194+2T>C Classic infantile Classic infantile <1 month died 1 Taiwan
PubMed c.1935C>A exon 8 c.1199_1210del/ Asian pseudodeficiency allele Classic infantile Classic infantile <1 month F NBS + 1 Taiwan
PubMed c.1935C>A exon 8 c.1199_1210del Classic infantile Classic infantile <14 days/<16 days 55 months/28 months +/+ 2 Taiwan
PubMed c.1935C>A exon 9 c.1396G>T Classic infantile Classic infantile 12 days M 38 weeks + 1 Taiwan
PubMed c.1935C>A exon 9 c.1411_1414del Classic infantile Classic infantile 2 months/2 months M/ F died at 4m/died at 7m +/+ +/+ 2 China
PubMed c.1935C>A exon 9 c.1411_1414del Classic infantile Classic infantile 3 months/ unknown/unknown died at 6m/NBS/NBS 3 Taiwan
PubMed c.1935C>A exon 9 c.1411_1414del/ Asian pseudodeficiency allele Classic infantile Classic infantile <1 month F NBS + 1 Taiwan
PubMed c.1935C>A exon 9 c.1411_1414del/ Asian pseudodeficiency allele Classic infantile Classic infantile 2 months M 7 years + 1 Taiwan
PubMed c.1935C>A exon 9 c.1411_1414del Classic infantile Classic infantile <26 days NBS + - 1 Taiwan
PubMed c.1935C>A exon 9 c.1437G>C Classic infantile Classic infantile 8 months died at 10 months 1 Taiwan
PubMed c.1935C>A exon 10 c.1509_1511del Classic infantile Classic infantile 3 months died 1 Taiwan
PubMed c.1935C>A intron 10 c.1551+2T>G Classic infantile Classic infantile 6.8 months M died at <18.7 months + 1 Northern China
PubMed c.1935C>A exon 11 c.1585_1586delinsGT Adult Adult unknown unknown 1 Japan
PubMed c.1935C>A exon 13 c.1799G>A Classic infantile unknown unknown unknown 1 China
PubMed c.1935C>A exon 13 c.1843G>A Classic infantile unknown unknown unknown 1 China
PubMed c.1935C>A exon 13 c.1843G>A Classic infantile Childhood unknown unknown 1 Taiwan
PubMed c.1935C>A exon 13 c.1843G>A Classic infantile Classic infantile 4 months died 1 Taiwan
PubMed c.1935C>A exon 18 c.2560C>T Classic infantile Adult 25 years F 30 years 1 African american
PubMed c.1935C>A exon 14 c.1935C>A Classic infantile Classic infantile 3-6 months (17) unknown (17) + (17) + (17) 17 Taiwan
PubMed c.1935C>A exon 9 c.1411_1414del Classic infantile Classic infantile 3-6 months/3-6 months unknown (2) +/+ +/+ 2 Taiwan
PubMed c.1935C>A exon 14 c.2024_2026del Classic infantile Classic infantile 3-6 months/3-6 months unknown (2) +/+ +/+ 2 Taiwan
PubMed c.1935C>A exon 14 c.1935C>A Classic infantile Classic infantile unknown unknown 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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