Pompe disease GAA variant database
Displaying 1201 - 1250 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.1064T>C intron 14 c.2041-2A>C Classic infantile Classic infantile 3 months F 5 months + non invasive ventilation + 1 Italy
PubMed c.1064T>C exon 6 c.1064T>C Classic infantile or Childhood Childhood <12 years + 0
PubMed c.1075G>A intron 1B c.-32-13T>G Childhood or Adult Adult 49 years F 55 years - - + 1 Caucasian
PubMed c.1075G>T second mutation is not reported unknown <2 years/<2 years unknown (2) 2 unknown
PubMed c.1075G>T exon 6 c.1075G>T Classic infantile Classic infantile <1 year 1 USA
c.1075+13C>T not disease-associated 0
PubMed c.1076-22T>G exon 18 c.2560C>T Classic infantile Childhood 20 months M 12 years slightly enlarged right ventricle - - - - 1 African american/ Caucasian
PubMed c.1076-22T>G intron 6 c.1076-22T>G Childhood Adult 40 years/38 years 58 years/53 years +/+ 2 Germany
PubMed c.1076-22T>G exon 13 c.1841C>A Unknown (disease-associated) Childhood or Adult unknown >10 years - 1 USA
PubMed c.1076-22T>G exon 14 c.1942G>A Classic infantile Childhood 14 years M 17 years Wolf-Parkinson-White syndrome (at 17y) + + + + 1 Caucasian
PubMed c.1076-22T>G exon 14 c.1942G>A Classic infantile Adult 25 years 47 years - + 24h/d + + - 1 Germany
PubMed c.1076-22T>G exon 2 c.525del Classic infantile Childhood 3,5 years M 5 years 1 Austria
PubMed c.1076-22T>G intron 6 c.1076-22T>G Childhood Childhood or Adult >12 years N.A. 1
PubMed c.1076-22T>G intron 1B c.-32-13T>G Childhood or Adult Adult 41 female 53 + 1 Dutch
PubMed c.1076-22T>G intron 1B c.-32-13T>G Childhood or Adult Adult 45 female 52 + 1 Dutch
PubMed c.1076-1G>A intron 1B c.-32-13T>G Childhood or Adult Adult 34 years 36 years + 1 Germany
PubMed c.1076-1G>C exon 2 c.343C>T Childhood or Adult Adult unknown 34 years + 1 Spain
PubMed c.1076-1G>C intron 1B c.-32-13T>G Childhood or Adult Adult unknown M unknown 1 Italy
PubMed c.1076-1G>C intron 6 c.1076-1G>C Classic infantile Classic infantile 4 months unknown + + 1 Spain
PubMed c.1076-1G>C exon 15 c.2173C>T Childhood or Adult Childhood 3 years/3 years unknown (2) +/- -/+ 2 Spain
PubMed c.1076-1G>C exon 14 c.1930G>C Adult Adult unknown 34 years 1 Spain
PubMed c.1076-1G>C intron 1B c.-32-13T>G Childhood or Adult Adult 50 years/ 67 years M/ M 60 years/72 years -/+ VC% in a sitting position 58 %/43% +/+ 2 Caucasian
PubMed c.1080C>G intron 2 c.546+5G>T Unknown (found only in NBS) unknown unknown M NBS - 1 Taiwan
PubMed c.1082C>T exon 2 c.503G>C Childhood Childhood 2 years F 3.5 years - 1 China
PubMed c.1082C>T exon 8 c.1309C>T Childhood Childhood (1)/ unknown (1) early childhood/asymptomatic M/ M 16 years/13 years -/- + at night/- +/- +/- +/- 2 China
PubMed c.1082C>T intron 10 c.1551+1G>C Classic infantile Childhood <3 years F unknown 1 Italy
PubMed c.1082C>T exon 14 c.1979G>A Childhood Childhood or Adult unknown >10 years - 1 USA
PubMed c.1082C>T exon 2 c.503G>C Childhood Childhood 2 years F unknown - - 1 China
PubMed c.1082C>T second mutation is not reported Adult 29 years F unknown + 1 China
PubMed c.1082C>T exon 8 c.1309C>T Childhood Childhood 6 years/10 years M/M 9 years/15 years -/+ -/+ 2 Hong Kong
PubMed c.1082C>T exon 7 c.1082C>T Classic infantile Classic infantile 4 months M 9 months + + + - 1 Saudi Arabia
PubMed c.1082C>T exon 7 c.1082C>T Classic infantile phenotype not reported at birth F N.A. 1 China
PubMed c.1082C>T exon 4 c.784G>A Classic infantile Classic infantile <4.5 months M 4.5 m + 1 Caucasian (from mother: Sicilian and Polish/from father: English and Scottish
PubMed c.1082C>A second mutation is not reported/ Asian pseudodeficiency allele NBS NBS 1 Japan
PubMed c.1082C>A Asian pseudodeficiency allele NBS NBS 1 Japan
PubMed c.1099T>C exon 7 c.1099T>C Classic infantile Classic infantile 2 months M died at 13 months + + + 1 Spanish-Italian
PubMed c.1099T>C exon 13 c.1802C>T/ Asian pseudodeficiency allele Classic infantile Classic infantile <6 months F 4.9 months + - 1 Hispanic
PubMed c.1099T>C exon 13 c.1802C>T Classic infantile Classic infantile <1 year 1 USA
PubMed c.1099T>C exon 14 c.1942G>A Classic infantile Classic infantile 3 months 5 months + 1 Thailand
PubMed c.1099T>G exon 2 c.546G>T Childhood or Adult Adult 72 years M - - + + - 1 Japan
PubMed c.1100G>A intron 1B c.-32-13T>G Childhood or Adult Childhood childhood unknown 1 Caucasian
PubMed c.1101G>A exon 14 c.1927G>A Classic infantile Classic infantile unknown unknown 1 Italy
PubMed c.1106T>C exon 6 c.1064T>C Classic infantile or Childhood Childhood 1.1 years M 5 years - + + + - 1 Colombia
PubMed c.1106T>A second mutation is not reported Childhoor or Adult >12 years N.A. 0
PubMed c.1108G>A second mutation is not reported Childhood or Adult N.D. M 53y + - + + - + + - + + 1 Italy
PubMed c.1109G>A second mutation is not reported Childhood or Adult >12 years N.A. 1
PubMed c.1114C>G second mutation is not reported Childhood or Adult >12 years N.A. 1
PubMed c.1114C>T second mutation is not reported Childhood or Adult >12 years N.A. 1
PubMed c.1115A>T exon 2 c.525del Classic infantile Classic infantile <7 months F <10 months + + + 1 Netherlands
PubMed c.1115A>T intron 1B c.-32-13T>G Childhood or Adult Childhood (1)/ Adult (1) 16 years/50 years 32 years/58 years +/+ 2 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