Pompe disease GAA variant database
Displaying 901 - 950 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.655G>A exon 3 c.655G>A Classic infantile Classic infantile <12 months + 0
c.658G>T unknown 0
c.664G>A unknown 0
PubMed c.664G>A exon 3 c.664G>A Unknown NBS NBS 5 Hungary
PubMed c.664G>A exon 15 c.2174G>A Unknown (found only in NBS) NBS NBS 1 Hungary
PubMed c.664G>A heteroyzgous carrier NBS NBS 10 Hungary
PubMed c.665T>G second mutation is not reported Classic infantile <12 months + 0
c.668G>A not disease-associated 0
PubMed c.670C>T exon 2 c.525del Classic infantile Childhood 8 months M died at 3 years moderate left
ventricular non-obstructive
hypertrophy Cardiac arhythmia 		+ 1 Italy
PubMed c.670C>T exon 2 c.525del Classic infantile Classic infantile unknown F unknown + 1 Italy
PubMed c.670C>T exon 16 c.2237G>A Classic infantile Childhood 2 years M died at 4 years moderate left
ventricular non-obstructive
hypertrophy Cardiac arhythmia 		+ 1 Italy
PubMed c.670C>T exon 14 c.1979G>A Childhood Childhood 2 years F 5 years - + 1 Japan
PubMed c.670C>T exon 6 c.1064T>C Classic infantile or Childhood Childhood 5-6 years M 6 years - + + + + 1 Lebanon
PubMed c.670C>T exon 4 c.763C>T Unknown (disease-associated) Childhood 6 months F died at 2 years - + + 1 Turkey
PubMed c.670C>T exon 2 c.525del Classic infantile Classic infantile 1 months F 9 months + Tracheostomy + 1 Italy
PubMed c.670C>T exon 3 c.670C>T Classic infantile or Childhood Childhood <12 years + 0
PubMed c.671G>C second mutation is not reported/ Asian pseudodeficiency allele NBS unknown M/ M NBS 2 Taiwan
PubMed c.671G>A exon 2 c.525del Classic infantile Adult 26 years M 46 years + + + + 1 Caucasian
PubMed c.685_686insCGGC exon 2 c.147_859-12del/ Asian pseudodeficiency allele Classic infantile Classic infantile 1.4 months M died at 14.7 months + - - 1 Asian
PubMed c.685_686insCGGC exon 2 c.147_859-12del Classic infantile Classic infantile <1 year 1 USA
PubMed c.686G>C second mutation is not reported Childhood or Adult >12 years N.A. 1
PubMed c.692T>C second mutation is not reported Childhood or Adult >12 years N.A. 1
PubMed c.692+1G>C exon 12 c.1645G>C Unknown (disease-associated) asymptomatic asymptomatic F 12 years - - - - - - - - - - 1 Italy
PubMed c.692+1G>C intron 1B c.-32-13T>G Childhood or Adult Childhood or Adult unknown F 26 years 1 Italy
PubMed c.692+1G>T second mutation is not reported Childhood or Adult >12 years N.A. 1
PubMed c.692+1G>A second mutation is not reported Classic infantile at birth F 16 weeks biventricular hypertrophy/ small pericardial effusion + + 1 USA
PubMed c.692+5G>T exon 8 c.1211A>G Classic infantile Childhood or Adult late teens F 50 years + + + + 1 Caucasian
PubMed c.692+5G>T exon 5 c.953T>A Childhood Childhood 11 years M 16 years 1 Austria
PubMed c.692+5G>T exon 5 c.953T>A Childhood Childhood 11 years M 15 years 1 France
PubMed c.691C>T second mutation is not reported Childhood <12 years - 0
c.692+38C>T not disease-associated 0
c.692+144A>G not disease-associated 0
c.692+509T>C not disease-associated 0
c.692+674G>C not disease-associated 0
c.692+751T>C not disease-associated 0
c.693-586G>A not disease-associated 0
c.693-585T>C not disease-associated 0
c.693-559C>T not disease-associated 0
c.693-491G>A not disease-associated 0
c.693-441C>G not disease-associated 0
c.693-434C>A not disease-associated 0
c.693-414C>G not disease-associated 0
c.693-413A>G not disease-associated 0
c.693-216T>A not disease-associated 0
c.693-94C>T not disease-associated 0
c.693-78C>T not disease-associated 0
c.693-49C>T not disease-associated 0
PubMed c.693-2A>C second mutation is not reported Classic infantile <12 months + 0
PubMed c.693-1G>C second mutation is not reported Childhood or Adult 1 France
PubMed c.693-1G>C second mutation is not reported Childhoor or Adult >12 years N.A. 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