Pompe disease GAA variant database
Displaying 1401 - 1450 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
c.1326+132G>A not disease-associated 0
c.1326+459C>T not disease-associated 0
c.1326+460G>A not disease-associated 0
c.1327-514G>A not disease-associated 0
c.1327-356G>T not disease-associated 0
c.1327-321del not disease-associated 0
c.1327-269A>G not disease-associated 0
c.1327-209C>T not disease-associated 0
c.1327-179G>A not disease-associated 0
c.1327-118A>G not disease-associated 0
PubMed c.1327-54_1437+178del intron 1B c.-32-13T>G Childhood or Adult Childhood 15 years 1 Belgium
c.1327-18A>G not disease-associated 0
PubMed c.1327-2A>G intron 8 c.1327-2A>G Classic infantile Classic infantile prenatal M 10.5 months + 1 United Arab Emirates
PubMed c.1327-2A>G intron 8 c.1327-2A>G Classic infantile Classic infantile <3 months M 3 months + 1 Arab
PubMed c.1327-2A>G exon 9 c.1437G>C Classic infantile Classic infantile 3 months 5 months + + 1 Thailand
PubMed c.1327-2A>C intron 8 c.1327-2A>C Classic infantile Classic infantile <1 year 1 USA
PubMed c.1331C>G intron 1B c.-32-13T>G Childhood or Adult Childhood unknown M 16-19 years - 1 Italy
PubMed c.1333G>C exon 12 c.1655T>C Classic infantile Childhood 3 years F 16 years + + + + 1 Italy
PubMed c.1354_1372del exon 4 c.853C>T Childhood or Adult Adult 40 years F 61 years + at night + + 1 France
PubMed c.1356del exon 16 c.2238G>C Childhood or Adult Adult 21 years F 23 years + + 1 China
PubMed c.1356del exon 4 c.784G>A Classic infantile Classic infantile 4.7 months F died at <18.7 months + 1 South China
PubMed c.1356del second mutation is not reported unknown <2 years unknown 1 Asian
PubMed c.1356del second mutation is not reported Childhoor or Adult >12 years N.A. 0
PubMed c.1358_1361del second mutation is not reported Classic infantile <12 months + 1 Northern India
PubMed c.1364A>C exon 14 c.1912G>T Classic infantile unknown 2 months unknown 1 Spain
PubMed c.1364A>T exon 11 c.1634C>T Childhood or Adult Childhood 13 years unknown 1 South Africa
PubMed c.1364A>T exon 9 c.1364A>T Unknown (disease-associated) Childhood 4 years unknown 1 South Africa
PubMed c.1370C>T exon 7 c.1128_1129delinsC Classic infantile Childhood 1.5 years M 5.5 years - FVC in sitting/ supine position 32/27% - - 1 Germany
c.1370C>A no combination/ no patient data reported 0
PubMed c.1371del intron 1B c.-32-13T>G Childhood or Adult Adult 18 years/22 years M/ M 18 years/22 years Wolf–Parkinson–White/- +/+ +/+ +/+ +/+ 2 Caucasian
c.1371del no combination/ no patient data reported 0
c.1373A>G unknown 0
c.1374C>T not disease-associated 0
PubMed c.1375G>A exon 5 c.893A>C Unknown (disease-associated) Childhood unknown unknown 1 Taiwan
PubMed c.1375G>A exon 7 c.1124G>A/ Asian pseudodeficiency allele Unknown (disease-associated) unknown unknown >10 years - 1 Asian
PubMed c.1375G>A exon 8 c.1220A>G Unknown (found only in NBS) NBS NBS 0 months 1 Mexico
PubMed c.1377_1379del exon 9 c.1377_1379del Classic infantile Classic infantile <1 year <1.5 years + 1 Austria
PubMed c.1378G>T second mutation is not reported Childhood or Adult 1 France
PubMed c.1378G>T second mutation is not reported Childhood or Adult >12 years N.A. 1
c.1381G>A no combination/ no patient data reported 0
PubMed c.1385T>C exon 12 c.1669A>T Classic infantile Classic infantile 8 months M died at 10 months + + 1 China
PubMed c.1388_1406del second mutation is not reported Childhood or Adult >12 years N.A. 1
PubMed c.1396del exon 4 c.784G>A Classic infantile Childhood 2 years and 6 months F died at 4 years + - 1 Italy
PubMed c.1396del exon 12 c.1705dup Classic infantile Classic infantile <5 months F 44 months + 1 Hispanic
PubMed c.1396del exon 16 c.2238G>C Childhood or Adult Adult 24 years/23 years F/ F 30 years/28 years -/- 2 China
PubMed c.1396del intron 1B c.-32-13T>G Childhood or Adult asymptomatic asymptomatic F 44 years 1 France
PubMed c.1396dup intron 1B c.-32-13T>G Childhood or Adult Childhood Juvenile 1 USA
PubMed c.1396dup second mutation is not reported Childhood or Adult >12 years N.A. 1
PubMed c.1396G>T exon 14 c.1935C>A Classic infantile Classic infantile 12 days M 38 weeks + 1 Taiwan
PubMed c.1396G>T intron 1B c.-32-13T>G Childhood or Adult Adult 28 21 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

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