Pompe disease GAA variant database
Displaying 2251 - 2300 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.2182_2183del second mutation is not reported NBS NBS NBS 1 USA
PubMed c.2182_2183del intron 1B c.-32-13T>G Childhood or Adult Childhood 14 years M 37 years 1 France
PubMed c.2182_2183del second mutation is not reported Childhood or Adult >12 years N.A. 1
PubMed c.2185del exon 15 c.2185del Classic infantile Classic infantile 3 months M died at 22 months + + 1 Brazil
PubMed c.2185del exon 14 c.1935C>A Classic infantile Classic infantile ~3.4 months F ~4.9 months + + 1 Southern China
PubMed c.2188G>T exon 4 c.829_851del Classic infantile Classic infantile 15 days M died at 4 months + 1 Italy
PubMed c.2188G>T intron 1B c.-32-13T>G Childhood or Adult Childhood 1 years F 6-12 months - + (improved after ERT) 1 USA
c.2189+1G>A no combination/ no patient data reported 0
PubMed c.2189+3G>C second mutation is not reported unknown <2 years unknown 1 Indian
PubMed c.2189+3G>C second mutation is not reported Classic infantile <12 months + 1 Northern India
c.2189+95C>T not disease-associated 0
c.2189+263G>A not disease-associated 0
PubMed c.2189+459_3405del exon 14 c.2012T>G Classic infantile Classic infantile 4.8 months F died at 24.8 months + - 1 Caucasian
PubMed c.2189+459_3405del intron 15 c.2189+459_3405del Classic infantile Classic infantile 5 months unknown + + 1 Bangladesh
c.2189+510T>G not disease-associated 0
c.2189+607G>A not disease-associated 0
c.2189+616T>C not disease-associated 0
c.2189+723G>A not disease-associated 0
c.2189+729A>G not disease-associated 0
c.2189+859A>G not disease-associated 0
c.2189+884G>A not disease-associated 0
c.2189+1153A>G not disease-associated 0
c.2189+1201C>A not disease-associated 0
c.2189+1208A>G not disease-associated 0
c.2189+1263A>G not disease-associated 0
c.2189+1290A>G not disease-associated 0
c.2189+1600C>T not disease-associated 0
c.2190-1531G>A not disease-associated 0
c.2190-1463G>A not disease-associated 0
c.2190-1139A>G not disease-associated 0
c.2190-1005A>G not disease-associated 0
c.2190-686G>A not disease-associated 0
c.2190-647G>A not disease-associated 0
c.2190-536G>A not disease-associated 0
c.2190-490G>A not disease-associated 0
c.2190-444A>G not disease-associated 0
c.2190-336C>T not disease-associated 0
PubMed c.2190-345A>G intron 1B c.-32-13T>G Childhood or Adult Adult 63 years/ 66 years F/ F + 2 Netherlands
c.2190-53C>G unknown 0
PubMed c.2205dup second mutation is not reported Childhood or Adult >12 years N.A. 1
PubMed c.2210C>A exon 2 c.525del Classic infantile Classic infantile <1 year <1 year + 1 USA
PubMed c.2213G>A intron 17 c.2481+102_2646+31del Classic infantile Classic infantile 0-2 months M 2 months 1 Germany
PubMed c.2213G>A intron 1B c.-32-13T>G Childhood or Adult Childhood or Adult 1 USA
PubMed c.2214G>A intron 1B c.-32-13T>G Childhood or Adult Childhood (1)/ Adult (1) 2 years/38 years F/ F 2 years/63 years -/+ -/+ 2 Germany
PubMed c.2219_2220del intron 1B c.-32-13T>G Childhood or Adult Childhood 6 years M 6 years 1 Italy
PubMed c.2219_2220del intron 1B c.-32-13T>G Childhood or Adult Adult 27 years 28 years + 1 Italy
PubMed c.2221G>A exon 14 c.1978C>T Classic infantile Classic infantile <1 year 1 USA
PubMed c.2222A>T second mutation is not reported Childhoor or Adult >12 years N.A. 0
c.2227C>A no combination/ no patient data reported 0
PubMed c.2227C>T exon 2 c.461G>C Unknown (disease-associated) Childhood 2 years F died at 4y,4m + + + 1 Italy

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