Pompe disease GAA variant database
Displaying 751 - 800 of 2717
  • Print
Link to
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.525del intron 1B c.-32-13T>G Childhood or Adult Adult 34 years F 39 years 1 USA
PubMed c.525del intron 17 c.2481+102_2646+31del Classic infantile Classic infantile <1 year 2 USA
PubMed c.525del exon 13 c.1799G>T Classic infantile Classic infantile <1 year 1 USA
PubMed c.525del exon 13 c.1880C>T Classic infantile or Childhood Classic infantile <1 year 1 USA
PubMed c.525del exon 12 c.1655T>C Classic infantile Classic infantile <1 year 1 USA
PubMed c.525del intron 1B c.-32-13T>G Childhood or Adult Classic infantile <1 year 1 USA
PubMed c.525del intron 1B c.-32-13T>G Childhood or Adult Childhood or Adult Adult 4 USA
PubMed c.525del intron 1B c.-32-13T>G Childhood or Adult Childhood NA/ 10 years F/F 12 years/21 years 2 France
PubMed c.525del exon 2 c.517_519del Childhood Childhood 16 years M 41 years 1 France
PubMed c.525del intron 1B c.-32-13T>G Childhood or Adult Adult ranging 18 to 56 years F/F/M/M/F 33/56/80/18/56 years 5 USA
PubMed c.525del exon 13 c.1781G>C Childhood or adult Childhood or Adult 1 USA
PubMed c.525del intron 1B c.-32-13T>G Childhood or Adult Childhood or Adult 3 USA
PubMed c.525del exon 3 c.670C>T Classic infantile or Childhood Classic infantile 1 months F 9 months + Tracheostomy + 1 Italy
PubMed c.525del exon 16 c.2237G>A Classic infantile Classic infantile birth M 3 + Tracheostomy + + (no sitting position) 1 Italy
PubMed c.525del intron 1B c.-32-13T>G Childhood or Adult Adult/ Childhood 50 years / 15 years F /M - / - 2 White British / Caucasian
PubMed c.525del intron 1B c.-32-13T>G Childhood or Adult Childhood 1 months / birth M 4 months / birth + / + (LVH) + / + + / NA 2 USA
PubMed c.525del exon 2 c.525del Classic infantile Classic infantile <12 months + 0
PubMed c.525del exon 2 c.525del Classic infantile Classic infantile <5 months/ at birth M/F 5.8 /1.8 months + (2) - (2) +/+ 2 Cucasian
PubMed c.525del intron 1B c.-32-13T>G Childhood or Adult Adult 18 years/10 years/23 years M/F/M -/-/+ - 3 Poland
PubMed c.525del intron 1B c.-32-13T>G Childhood or Adult Childhood 8 male 9 1 Dutch
PubMed c.525del intron 1B c.-32-13T>G Childhood or Adult Childhood 11 female 12 1 Dutch
PubMed c.525del intron 1B c.-32-13T>G Childhood or Adult Childhood 5 male 11 1 Dutch
PubMed c.525del intron 1B c.-32-13T>G Childhood or Adult Childhood N.D. male 13 1 Dutch
PubMed c.525del intron 1B c.-32-13T>G Childhood or Adult Childhood 2 male 1 + 1 Dutch
PubMed c.525del intron 1B c.-32-13T>G Childhood or Adult Childhood 0.5 male 2 + 1 Dutch
PubMed c.525del intron 1B c.-32-13T>G Childhood or Adult Adult 19 male 19 1 Dutch
PubMed c.525del intron 1B c.-32-13T>G Childhood or Adult Unknown N.D. male 28 1 Dutch
PubMed c.525del intron 1B c.-32-13T>G Childhood or Adult Adult 23 male 26 1 Dutch
PubMed c.525del intron 1B c.-32-13T>G Childhood or Adult Adult 23 female 33 + + 1 Dutch
PubMed c.525del intron 1B c.-32-13T>G Childhood or Adult Adult 32 female 31 1 Dutch
PubMed c.525del intron 1B c.-32-13T>G Childhood or Adult Adult 27 female 44 1 Dutch
PubMed c.525del intron 1B c.-32-13T>G Childhood or Adult Adult 38 male 47 1 Dutch
PubMed c.525del intron 1B c.-32-13T>G Childhood or Adult Adult 47 female 51 1 Dutch
PubMed c.525del intron 1B c.-32-13T>G Childhood or Adult Adult 35 female 45 1 Dutch
PubMed c.525del intron 1B c.-32-13T>G Childhood or Adult Adult 32 female 25 1 Dutch
PubMed c.525del intron 1B c.-32-13T>G Childhood or Adult Adult 40 male 43 1 Dutch
PubMed c.525del intron 1B c.-32-13T>G Childhood or Adult Adult 36 female 37 + + 1 Dutch
PubMed c.525del intron 1B c.-32-13T>G Childhood or Adult Adult 33 male 34 + + 1 Dutch
PubMed c.525del intron 1B c.-32-13T>G Childhood or Adult Adult 43 female 26 1 Dutch
PubMed c.525del intron 1B c.-32-13T>G Childhood or Adult Adult 35 male 43 1 Dutch
PubMed c.525del intron 1B c.-32-13T>G Childhood or Adult Adult 44 female 44 + + + 1 Dutch
PubMed c.525del intron 1B c.-32-13T>G Childhood or Adult Adult 30 male 48 + + 1 Dutch
PubMed c.525del intron 1B c.-32-13T>G Childhood or Adult Adult 61 male 67 + 1 Dutch
PubMed c.525del intron 1B c.-32-13T>G Childhood or Adult Adult 40 female 45 + + 1 Dutch
PubMed c.525del intron 1B c.-32-13T>G Childhood or Adult Adult 20 male 62 + 1 Dutch
PubMed c.525del intron 1B c.-32-13T>G Childhood or Adult Adult 21 male 64 + + + 1 Dutch
PubMed c.525del intron 1B c.-32-13T>G Childhood or Adult Childhood 1 1.3141683778234 1 Unknown
PubMed c.525del intron 1B c.-32-13T>G Childhood or Adult Childhood 0.8 2.3326488706366 1 Unknown
PubMed c.525del intron 1B c.[-32-13T>G; c.510C>T] Childhood or Adult Childhood 1 1.7248459958932 1 Unknown
PubMed c.525del intron 1B c.-32-13T>G Childhood or Adult Adult 21 33 1 Unknown

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