Pompe disease GAA variant database
Displaying 1001 - 1050 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.784G>A exon 11 c.1561G>C Classic infantile Classic infantile at birth M 4 months + + 1 Brazil
PubMed c.784G>A exon 14 c.1935C>A/ Asian pseudodeficiency allele Classic infantile Classic infantile <1 month M NBS + 1 Taiwan
PubMed c.784G>A intron 1B c.-32-13T>G Childhood or Adult Adult 30 years F 72 years - + 1 Caucasian
PubMed c.784G>A exon 9 c.1356del Classic infantile Classic infantile 4.7 months F died at <18.7 months + 1 South China
PubMed c.784G>A exon 9 c.1396del Classic infantile Childhood 2 years and 6 months F died at 4 years + - 1 Italy
PubMed c.784G>A intron 1B c.-32-13T>G Childhood or Adult Childhood or Adult Adult 3 USA
PubMed c.784G>A exon 6 c.1057del Unknown (disease-associated) Classic infantile 2 months F 6 months + + + 1 Austria
PubMed c.784G>A intron 1B c.-32-13T>G Childhood or Adult Adult early adult/adult 49 years/33 years -/- 2 Italy
PubMed c.784G>A intron 1B c.-32-13T>G Childhood or Adult Adult 32 years/35 years 42 years/75 years -/- 2 Italy
PubMed c.784G>A exon 13 c.1802C>T Classic infantile Classic infantile 2 months F 4 months + + + 1 Saudi Arabia
PubMed c.784G>A exon 4 c.784G>A Classic infantile Classic infantile 1 months M 1,5 months + non invasive ventilation + + (no sitting position) 1 Italy
PubMed c.784G>A exon 13 c.1822C>T Classic infantile Classic infantile 2 months F 3 months + Tracheostomy + 1 Italy
PubMed c.784G>A exon 7 c.1082C>T Classic infantile Classic infantile <4.5 months M 4.5 m + 1 Caucasian (from mother: Sicilian and Polish/from father: English and Scottish
PubMed c.784G>A second mutation is not reported Classic infantile <12 months + 1 Northern India
PubMed c.784G>C second mutation is not reported Classic infantile <12 months + 1 Northern India
PubMed c.794del intron 1B c.-32-13T>G Childhood or Adult Adult 35 years 37 years - + 1 Germany
PubMed c.794del exon 14 c.1933G>A Classic infantile Classic infantile at birth 1 month + 1 Germany
PubMed c.794del exon 14 c.1933G>A Classic infantile Classic infantile 0-1.5 months F 1.5 months + motor delay 1m 1 Germany
PubMed c.796C>T exon 8 c.1316T>A Classic infantile Childhood 9 years M 15 years + at night + + 1 Korea
PubMed c.796C>T exon 15 c.2105G>A Classic infantile Childhood 1 year and 9 months M unknown + - + 1 China
PubMed c.796C>T exon 8 c.1309C>T Childhood Childhood 8 years M unknown + 1 China
PubMed c.796C>T exon 8 c.1316T>A Classic infantile Childhood 9 years M 11 years - 1 Korea
PubMed c.796C>T exon 8 c.1309C>T Childhood Childhood 8 years M 14 years - 1 China
PubMed c.796C>T exon 11 c.1602_1605delinsAGG Classic infantile Classic infantile ~3.4 months F ~4.9 months + + 1 Northern China
PubMed c.796C>T exon 14 c.1935C>A Classic infantile Classic infantile ~3.4 months M ~4.9 months + + 1 Northern China
PubMed c.796C>T exon 2 c.546G>T Childhood or Adult Childhood/ Adult 23 years M 30 years NA/- +/ - NA/- NA/+ NA/+ 2 Japan
PubMed c.796C>T Asian pseudodeficiency allele NBS NBS NBS 1 Japan
PubMed c.796C>A exon 16 c.2237G>A Classic infantile Childhood 13 years F 16 years 1 China
PubMed c.799_803delinsA second mutation is not reported Childhood or Adult 1 France
PubMed c.811A>G exon 2 c.424_440del/ Asian pseudodeficiency allele Unknown (found only in NBS) Childhood 11-14 months F NBS - 1 Taiwan
PubMed c.827_845del exon 13 c.1798C>T Classic infantile Classic infantile 5 months F died at 1y,2m + + + 1 China
PubMed c.829_851del exon 15 c.2188G>T Classic infantile Classic infantile 15 days M died at 4 months + 1 Italy
PubMed c.836G>A intron 1B c.-32-13T>G Childhood or Adult Adult 26 years M 40 years + at night + + + 1 Argentina
PubMed c.836G>A intron 1B c.-32-13T>G Childhood or Adult Childhood or Adult Adult 1 USA
PubMed c.837G>C exon 16 c.2238G>C Childhood or Adult Childhood 14 years M 1 China
PubMed c.841C>T second mutation is not reported Childhood <12 years - 0
PubMed c.844G>C intron 1B c.-32-13T>G Childhood or Adult Adult 34-39 years M 64 years + + + + + 1 Caucasian
c.852G>A not disease-associated 0
PubMed c.853C>T exon 9 c.1354_1372del Unknown (disease-associated) Adult 40 years F 61 years + at night + + 1 France
PubMed c.853C>T exon 16 c.2237G>A Classic infantile Childhood or Adult unknown >10 years - 1 USA
PubMed c.853C>T exon 18 c.2560C>T Classic infantile Adult 40 years F 40 years 1 USA
PubMed c.854C>G exon 12 c.1655T>C Classic infantile Childhood 1 year M <2.5 years + + + + 1 Germany
PubMed c.854C>G exon 4 c.854C>G Childhood Childhood 2 years M 4 years mild left ventricular hypertrophy - - + 1 Iran
PubMed c.858+2T>A intron 4 c.858+2T>A Classic infantile or Childhood Childhood <2 years unknown 1 Middle Eastern
c.858+5_858+6ins7 not disease-associated 0
c.858+6G>A unknown 0
c.858+17_858+23del unknown 0
c.858+20dup unknown 0
c.858+21C>G unknown 0
c.858+17_858+23dup 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

www.pompecenter.nl