Pompe disease GAA variant database
Displaying 351 - 400 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.-32-13T>G exon 18 c.2560C>T Classic infantile Adult 41 years M 41 years 1 USA
PubMed c.-32-13T>G exon 3 c.655G>A Classic infantile Adult 44 years M 44 years 1 USA
PubMed c.-32-13T>G exon 6 c.1064T>C Classic infantile or Childhood Adult 70 years M 70 years 1 USA
PubMed c.-32-13T>G exon 12 c.1655T>C Classic infantile Adult 49 years F 49 years 1 USA
PubMed c.-32-13T>G exon 13 c.1827del Unknown (disease-associated) Adult 36 years M 36 years 1 USA
PubMed c.-32-13T>G exon 2 c.258dup Unknown (disease-associated) Adult 33 years M 33 years 1 USA
PubMed c.-32-13T>G exon 4 c.766_785delinsC Unknown (disease-associated) Adult 46 years F 46 years 1 USA
PubMed c.-32-13T>G exon 16 c.2242dup Classic infantile Childhood 8 years F 8 years 1 USA
PubMed c.-32-13T>G second mutation is not reported Childhood or Adult 1 USA
PubMed c.-32-13T>G exon 10 c.1447G>A Classic infantile Childhood or Adult 1 USA
PubMed c.-32-13T>G exon 8 c.1240T>C Unknown (disease-associated) Childhood or Adult 1 USA
PubMed c.-32-13T>G exon 9 c.1402A>T Unknown (disease-associated) Childhood or Adult 1 USA
PubMed c.-32-13T>G exon 5 c.915G>A Unknown (disease-associated) Childhood or Adult 1 USA
PubMed c.-32-13T>G exon 16 c.2213G>A Classic infantile Childhood or Adult 1 USA
PubMed c.-32-13T>G exon 2 c.525del Classic infantile Childhood or Adult 3 USA
PubMed c.-32-13T>G exon 10 c.1441T>C Classic infantile Childhood or Adult 2 USA
PubMed c.-32-13T>G exon 16 c.2242dup Classic infantile Childhood or Adult 3 USA
PubMed c.-32-13T>G intron 1B c.-32-13T>G Childhood or Adult Childhood or Adult 1 USA
PubMed c.-32-13T>G exon 10 c.1548G>A Classic infantile Childhood or Adult 1 USA
PubMed c.-32-13T>G intron 2 c.546+1G>T Unknown (disease-associated) Childhood or Adult 1 USA
PubMed c.-32-13T>G intron 17 c.2481+102_2646+31del Classic infantile Childhood or Adult 2 USA
PubMed c.-32-13T>G exon 4 c.722_723del Classic infantile Childhood or Adult 1 USA
PubMed c.-32-13T>G exon 17 c.2459_2461del Unknown (disease-associated) Childhood or Adult 1 USA
PubMed c.-32-13T>G exon 18 c.2608C>T Classic infantile Childhood or Adult 1 USA
PubMed c.-32-13T>G exon 19 c.2662G>T Classic infantile Childhood 6 years/ 4 years/ 8 years M / F / F 28 years/ 14 years/ 18 years 3 Poland
PubMed c.-32-13T>G exon 5 c.925G>A Classic infantile Childhood 3,5 years M 10 years 1 Poland
PubMed c.-32-13T>G exon 2 c.307T>G Classic infantile Childhood (2) /Adult (4) 7/35/15/33/28/26 years F/M/M/M/M/F 24/39/27/45/32/26 years 6 Poland
PubMed c.-32-13T>G intron 17 c.2481+102_2646+31del Classic infantile Adult 36 years F 48 years non invasive ventilation at night + + + 1 USA
PubMed c.-32-13T>G exon 13 c.1841C>A Unknown (disease-associated) Adult 35 years M Atrial fibrilation - 1 Welsh/English/Caucasian
PubMed c.-32-13T>G intron 16 c.2331+2T>A Classic infantile Adult young adult M - 1 German
PubMed c.-32-13T>G exon 15 c.2066_2070dup Unknown (disease-associated) Adult middle age M - 1 Romanian
PubMed c.-32-13T>G exon 16 c.2269C>T Classic infantile Adult middle age F - 1 Serbian
PubMed c.-32-13T>G exon 15 c.2051C>G Unknown (disease-associated) Adult Late onset F - + 1 Serbian
PubMed c.-32-13T>G exon 2 c.525del Classic infantile Adult/ Childhood 50 years/ 15 years F /M - / - 2 White British / Caucasian
PubMed c.-32-13T>G exon 2 c.525del Classic infantile Childhood 1 months / birth M 4 months / birth + / + (LVH) + / + + / NA 2 USA
PubMed c.-32-13T>G exon 15 c.2188G>T Classic infantile Childhood 1 years F 6-12 months - + (improved after ERT) 1 USA
PubMed c.-32-13T>G intron 1B c.-32-13T>G Childhood or Adult unknown 3 months/ asymptomatic (3) F/ F/ M/ F 1/3/1 months/ at birth - 4 USA
PubMed c.-32-13T>G exon 13 c.[-32-13T>G; c.1856G>A] Childhood or Adult/ Classic infantile Classic infantile 7 months F 8 months + + + 1 Turkey
PubMed c.-32-13T>G exon 9 c.1402A>T Unknown (disease-associated) Childhood or Adult 1 USA
PubMed c.-32-13T>G exon 4 c.743T>G Unknown (disease-associated) Childhood or Adult 1 USA
PubMed c.-32-13T>G intron 17 c.2481+102_2646+31del Classic infantile Childhood 0-49 months/ 0-4 months M/F 49 months/4 months 2 Germany
PubMed c.-32-13T>G intron 8 c.1327-54_1437+178del Unknown (disease-associated) Childhood 15 years 1 Belgium
PubMed c.-32-13T>G exon 18 c.2560C>T Classic infantile Childhood 10 years M 10 years + 1 USA
PubMed c.-32-13T>G intron 1B c.-32-13T>G Childhood or Adult NBS NBS NBS 1 USA
PubMed c.-32-13T>G exon 18 c.2495_2496del Classic infantile Adult 22 years F 25 years - 1 Poland
PubMed c.-32-13T>G exon 2 c.525del Classic infantile Childhood (1)/ Adult (2) 18 years/10 years/23 years M/F/M -/-/+ - 3 Poland
PubMed c.-32-13T>G exon 2 c.397T>G Unknown (disease-associated) Adult 35 years F 38 years - 1 Poland
PubMed c.-32-13T>G exon 14 c.1952dup Unknown (disease-associated) Adult Since childhood F/F 36/46 2 Poland
PubMed c.-32-13T>G exon 15 c.2078dup Classic infantile Childhood 0,5 years M 3 years 1 Poland
PubMed c.-32-13T>G exon 2 c.307T>G Classic infantile Adult 28 years F 37 years - 1 Poland

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