Pompe disease GAA variant database
Displaying 1 - 50 of 2717
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 Ch37/hg19:g.78,056,048_ 78,094,854delins14bp exon 5 c.925G>A Classic infantile Classic infantile 6 months M died at 17 months + + 1 Spain
PubMed Ch37/hg19 chr17:78,059,821_ 78,076,592del intron 16 c.2331+2T>A Classic infantile Classic infantile <1 month + 1 Netherlands
c.-338C>G not disease-associated 0
c.-260G>C not disease-associated 0
c.-178G>A not disease-associated 0
PubMed c.-113+2T>C intron 1A c.-113+2T>C Unknown (disease-associated) Adult 21 years/24 years/41 years -/-/- 3 Spain
c.-82G>C no combination/ no patient data reported 0
c.-75C>G not disease-associated 0
c.-33+219G>C not disease-associated 0
c.-33+316C>A not disease-associated 0
c.-33+317C>T not disease-associated 0
c.-33+671A>C not disease-associated 0
c.-33+757G>A not disease-associated 0
c.-33+903A>C not disease-associated 0
c.-33+1104A>G not disease-associated 0
c.-33+1172G>A not disease-associated 0
c.-33+1190G>T not disease-associated 0
c.-33+1309T>C not disease-associated 0
c.-32-1298G>C not disease-associated 0
c.-32-1124C>T not disease-associated 0
c.-32-884T>C not disease-associated 0
c.-32-793C>G not disease-associated 0
c.-32-721G>C not disease-associated 0
c.-32-686A>G not disease-associated 0
c.-32-640C>T not disease-associated 0
c.-32-521G>T not disease-associated 0
c.-32-494C>G not disease-associated 0
c.-32-462G>A not disease-associated 0
PubMed c.-32-17_-32-10delins(30) exon 10 c.1447G>A Classic infantile Classic infantile <1 year 1 USA
PubMed c.-32-13T>G intron 1B c.-32-13T>G Childhood or Adult Adult 35 years F 48 years - - + (Walton
score: III) 		- 1 Portugal
PubMed c.-32-13T>G intron 1B c.-32-13T>G Childhood or Adult Adult 38 years F 47 years - - - - + 1 Colombia
PubMed c.-32-13T>G intron 1B c.-32-13T>G Childhood or Adult asymptomatic asymptomatic F 68 years - - - - - - + - - - 1 France
PubMed c.-32-13T>G intron 1B c.-32-13T>G Childhood or Adult Childhood 13 years M 13 years FVC in sitting/ supine position 82/75% - - 1 Germany
PubMed c.-32-13T>G intron 1B c.-32-13T>G Childhood or Adult Adult 20 years M 25 years - - - + 1 Italy
PubMed c.-32-13T>G intron 1B c.-32-13T>G Childhood or Adult Adult (1)/ Childhood (1) 48 years/6 years 49 years/8 years -/- -/- -/- -/- -/- 2 Germany
PubMed c.-32-13T>G intron 1B c.-32-13T>G Childhood or Adult Adult (2) 49 years/40 years M/M 51 years/42 years -/slight left
ventricular hypertrophy 		-/- -/- -/- -/- -/- 2 Italy
PubMed c.-32-13T>G intron 1B c.-32-13T>G Childhood or Adult Adult 25 years F unknown - + 11h/night + + + + 1 Germany
PubMed c.-32-13T>G intron 1B c.-32-13T>G Childhood or Adult Adult 48 years M unknown - + 7h/night + - - + 1 Germany
PubMed c.-32-13T>G intron 1B c.-32-13T>G Childhood or Adult Adult 58 years M unknown - - - - - - 1 Germany
PubMed c.-32-13T>G intron 1B c.-32-13T>G Childhood or Adult Adult 42 years F unknown - - - - - - 1 Germany
PubMed c.-32-13T>G intron 1B c.-32-13T>G Childhood or Adult Adult 47 years M 49 years + + - - 1 Caucasian
PubMed c.-32-13T>G intron 1B c.-32-13T>G Childhood or Adult Adult 39 years F 41 years - 1 Germany
PubMed c.-32-13T>G intron 1B c.-32-13T>G Childhood or Adult unknown (2) Presymptomatic F/F 34y/prenatally diagnosed -/- -/- -/- -/- -/- -/- -/- -/- -/- -/- 2 USA
PubMed c.-32-13T>G exon 2 c.25del Unknown (disease-associated) Adult 20 years M 48 years - + 1 Italy
PubMed c.-32-13T>G exon 2 c.118C>T Classic infantile Adult 49 years F 64 years - - + - 1 France
PubMed c.-32-13T>G exon 2 c.118C>T Classic infantile Adult 40 years F 69 years - + at night - - + + 1 France
PubMed c.-32-13T>G exon 2 c.258dup Unknown (disease-associated) Adult unknown M unknown 1 Italy
PubMed c.-32-13T>G exon 2 c.271del Unknown (disease-associated) Adult 37 years 49 years - - 1 Germany
PubMed c.-32-13T>G exon 2 c.307T>G Classic infantile Childhood 2 years F 3 years - + + - + 1 Caucasian
PubMed c.-32-13T>G exon 2 c.307T>G Classic infantile Adult 43 years/20 years/55 years 47y/43y/65y +/-/- -/+/- +/+/+ 3 Germany

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