Pompe disease GAA variant database
Displaying 851 - 900 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.546G>T Asian pseudodeficiency allele NBS NBS NBS 4 Japan
PubMed c.546G>C intron 1B c.-32-13T>G Childhood or Adult Adult unknown 65 years ischemic cardiopathy + 1 Spain
PubMed c.546G>C second mutation is not reported Classic infantile <12 months + 1 Northern India
PubMed c.546+1G>T intron 1B c.-32-13T>G Childhood or Adult Adult 41 years/42 years F/ F 42 years/47 years -/- 2 Italy
PubMed c.546+1G>T intron 1B c.-32-13T>G Childhood or Adult Childhood or Adult 1 USA
PubMed c.546+2T>C intron 2 c.546+2T>C Classic infantile Classic infantile <2.5 months M 4.1 months + + at night 1 African Canadian
PubMed c.546+2_546+5del exon 12 c.1650dup Classic infantile Classic infantile at birth M/ F 4.5 years/2 years +/+ 2 African American
PubMed c.546+2_546+5del exon 12 c.1650dup Classic infantile Classic infantile <1 year 2 USA
PubMed c.546+2_546+5del exon 18 c.2501_2502del Classic infantile Classic infantile <1 year 1 USA
PubMed c.546+5G>T exon 7 c.1080C>G Unknown (found only in NBS) unknown unknown M NBS - 1 Taiwan
PubMed c.546+5G>T intron 2 c.546+5G>T Unknown (found only in NBS) unknown unknown M NBS - 1 Taiwan
c.546+24G>A unknown 0
c.546+45G>C no combination/ no patient data reported 0
c.546+293G>A not disease-associated 0
c.547-243C>G not disease-associated 0
c.547-238T>C not disease-associated 0
c.547-67C>G not disease-associated 0
c.547-39T>G not disease-associated 0
c.547-39T>G not disease-associated 0
c.547-4C>G not disease-associated 0
PubMed c.547-1G>C exon 15 c.2167G>A Childhood Childhood 1 years M - - + + + 1 Japan
PubMed c.568C>T second mutation is not reported Childhood <12 years - 0
PubMed c.569G>A exon 10 c.1447G>A Classic infantile Childhood 15 years/unknown M/ M 25 years/23 years FVC in sitting/ supine position 75/65% / 57/48% -/+ +/+ 2 Caucasian
PubMed c.569G>A exon 14 c.2020C>G Unknown (disease-associated) Adult young adult M - + 1 Caucasian
PubMed c.569G>A exon 4 c.756_757insT Unknown (disease-associated) Childhood 13 years M 19 years - - - - - 1 Japan
PubMed c.569G>A intron 1B c.-32-13T>G Childhood or Adult Childhood 15 male 25 1 Dutch
PubMed c.569G>A intron 1B c.-32-13T>G Childhood or Adult Adult 18 male 23 + 1 Dutch
PubMed c.572A>G second mutation is not reported Childhood <3 years F 6 years + + 1 Italy
PubMed c.573C>A intron 18 c.2646+2T>A Classic infantile Classic infantile 2.5-3 months F died at 4.5 months + + 1 Spain
PubMed c.573C>A intron 1B c.-32-13T>G Childhood or Adult Adult ranging 30 to 57 years 4 France
PubMed c.573C>A exon 15 c.2173C>T Childhood or Adult Childhood NA/ 16 years F/F 3/1 2 France
c.596A>G not disease-associated 0
PubMed c.623T>C intron 1B c.-32-13T>G Childhood or Adult Adult 29 years
M 34 years - - + + 1 South America
PubMed c.634G>T intron 1B c.-32-13T>G Childhood or Adult Childhood 10 years F 15 years - 1 Brazil
c.642C>T not disease-associated 0
PubMed c.650C>T intron 17 c.2481+102_2646+31del Classic infantile Classic infantile at birth M 2 months + + 1 Brazil
PubMed c.655G>A exon 4 c.784G>A Classic infantile Classic infantile 2.5-4 months F died at 10 months + + 1 Spain
PubMed c.655G>A exon 5 c.923A>C Classic infantile Classic infantile <1 year <1.5 years + 1 Germany
PubMed c.655G>A exon 13 c.1796C>A Unknown (disease-associated) unknown prenatal died + 1 Italy
PubMed c.655G>A exon 13 c.1799G>A Classic infantile Classic infantile 3 months M 4 months + + 1 France
PubMed c.655G>A intron 1B c.-32-13T>G Childhood or Adult Adult 34 years M 62 years + + + 1 France
PubMed c.655G>A exon 12 c.1735G>A Classic infantile Classic infantile <6 months M 5.5 months + 1 Caucasian
PubMed c.655G>A intron 1B c.-32-13T>G Childhood or Adult asymptomatic Asymptomatic M 2 years Bilateral calf hypertrophy 1 France
PubMed c.655G>A exon 14 c.1979G>A Childhood Classic infantile <1 year 1 USA
PubMed c.655G>A exon 3 c.655G>A Classic infantile Classic infantile <1 year 1 USA
PubMed c.655G>A exon 3 c.655G>A Classic infantile Classic infantile <1 year 1 USA
PubMed c.655G>A exon 2 c.169C>T Classic infantile Childhood 3 years F 24 years - - - - - 1 Japan
PubMed c.655G>A exon 3 c.655G>A Classic infantile Classic infantile 3 months/3w/3 months M/M/F 3 months/3 months/6 months + -/-/+ + -/-/+ 3 Saudi Arabia
PubMed c.655G>A intron 1B c.-32-13T>G Childhood or Adult Adult ranging 31 to 55 years 7 France
PubMed c.655G>A intron 1B c.-32-13T>G Childhood or Adult Adult 44 years M 44 years 1 USA

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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