Pompe disease GAA variant database
Displaying 1301 - 1350 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.1195-19_2190-20del intron 18 c.2646+2T>A Classic infantile Classic infantile 5 months unknown + + 1 El Salvador
PubMed c.1195-19_2190-20del intron 7 c.1195-19_2190-20del Classic infantile Classic infantile <1 year 1 USA
PubMed c.1195-19_2190-20del intron 7 c.1195-19_2190-20del Classic infantile Classic infantile <12 months + 0
PubMed c.1195-15G>A intron 19 c.2800-4C>G Unknown (disease-associated) Adult 39 years F 49 years - - - 1 Caucasian
PubMed c.1195-8G>A exon 2 c.258dup Unknown (disease-associated) Childhood or Adult unknown >10 years - 1 USA
PubMed c.1195-8G>A exon 16 c.2242dup Classic infantile Childhood or Adult unknown >10 years - 1 USA
PubMed c.1195-2A>G second mutation is not reported Classic infantile at birth M 8 months + + 1 Brazil
PubMed c.1195-2A>G intron 7 c.1195-2A>G Classic infantile unknown <2 years unknown 1 unknown
PubMed c.1195-2A>G intron 7 c.1195-2A>G Classic infantile Classic infantile 2 months F 3 months + - - 1 Austria
PubMed c.1195-2A>G intron 7 c.1195-2A>G Classic infantile Classic infantile <12 months + 0
PubMed c.1199_1210del exon 14 c.1935C>A/ Asian pseudodeficiency allele Classic infantile Classic infantile <1 month F NBS + 1 Taiwan
PubMed c.1199_1210del exon 14 c.1935C>A Classic infantile Classic infantile <14 days/<16 days 55 months/28 months +/+ 2 Taiwan
PubMed c.1199_1210del second mutation is not reported Classic infantile <12 months + 0
PubMed c.1201C>A exon 6 c.1057C>T Unknown (disease-associated) Childhood 1 years M 42 years 1 China
PubMed c.1201C>A second mutation is not reported Childhood or Adult >12 years N.A. 1
PubMed c.1202A>G intron 17 c.2481+102_2646+31del Classic infantile Classic infantile <3 months F unknown + 1 Italy
c.1203G>A not disease-associated 0
c.1204T>C no combination/ no patient data reported 0
PubMed c.1209C>G exon 2 c.525del Classic infantile Classic infantile <3 months 3 months + supplemental oxygen 1 Netherlands
PubMed c.1209C>A intron 1B c.-32-13T>G Childhood or Adult Adult 37 years M 41 years - - - - 1 Turkey
PubMed c.1209del second mutation is not reported unknown <2 years/<2 years unknown (2) 2 unknown
PubMed c.1209del exon 8 c.1209del Classic infantile Classic infantile <6 months 6 months + - - 1 Arab
PubMed c.1209del exon 8 c.1209del Classic infantile Classic infantile <1 year 1 USA
PubMed c.1210G>A exon 17 c.2432del Classic infantile Classic infantile 5 days M 2 months + 1 Argentinean Caucasian
PubMed c.1210G>A intron 1B c.-32-13T>G Childhood or Adult asymptomatic asymptomatic M 31 years - - - - - - - - - - 1 Caucasian
PubMed c.1210G>A intron 17 c.2481+102_2646+31del Classic infantile Classic infantile <1 year 1 USA
PubMed c.1210G>A exon 14 c.1924G>T Classic infantile Classic infantile <1 year 1 USA
PubMed c.1210G>A exon 8 c.1210G>A Classic infantile Classic infantile <12 months + 0
PubMed c.1211A>G intron 3 c.692+5G>T Childhood or adult Childhood or Adult late teens F 50 years + + + + 1 Caucasian
PubMed c.1211A>G exon 13 c.1798C>T Classic infantile Classic infantile 5 months M 6 months + + 1 Caucasian
PubMed c.1211A>C second mutation is not reported Childhood <12 years - 1
PubMed c.1211A>T second mutation is not reported Classic infantile <12 months + 0
PubMed c.1212C>G second mutation is not reported Childhood or Adult 1 France
PubMed c.1214T>C exon 8 c.1214T>C Classic infantile Classic infantile <1 year <1.5 years + 1 Greek
PubMed c.1216G>A exon 9 c.1409A>C Unknown (found only in NBS) NBS NBS 1 Hungary
PubMed c.1216G>A exon 14 c.1935C>A Childhood Childhood 2y/4y M/F 2y/4y +/+ -/+ +/+ 2 China
PubMed c.1219T>C second mutation is not reported Childhoor or Adult >12 years N.A. 0
PubMed c.1220A>G exon 9 c.1375G>A Unknown (disease-associated) NBS NBS 0 months 1 Mexico
PubMed c.1221C>A second mutation is not reported Classic infantile <12 months + 0
PubMed c.1221del intron 1B c.-32-13T>G Childhood or Adult Adult 26 35 1 Unknown
PubMed c.1222A>G exon 6 c.1000G>A Childhood Childhood <7 years M unknown 1 UK
PubMed c.1222A>G exon 9 c.1408_1410del Classic infantile Classic infantile 2 months/at birth M/ unknown died at < 2y/unknown +/+ +/+ 2 Spain
PubMed c.1226_1227insG exon 14 c.2024_2026del Classic infantile Classic infantile 3 months 7 months + 1 Thailand
c.1229C>T unknown 0
PubMed c.1231del second mutation is not reported Childhood <12 years - 1
PubMed c.1239C>G exon 16 c.2228A>G Unknown (disease-associated) Childhood 15 years/unknown F/ F 15 years/13 years -/- -/- +/+ 2 UK
PubMed c.1240T>C intron 1B c.-32-13T>G Childhood or Adult Childhood or Adult 1 USA
PubMed c.1241del exon 19 c.2662G>T Classic infantile Classic infantile ~3.4 months F ~4.9 months + + 1 Southern China
PubMed c.1242C>A second mutation is not reported Childhood or Adult >12 years N.A. 1
PubMed c.1244C>T exon 4 c.[752C>T; 761C>T] Unknown (disease-associated) NBS NBS 1 Japan

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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