Pompe disease GAA variant database
Displaying 2551 - 2600 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.2560C>T exon 16 c.2236T>C Classic infantile Classic infantile 0.3 years M 2 years + - + + rapidly progressive muscle weakness 1 Colombia
PubMed c.2560C>T exon 7 c.1129G>C Classic infantile Classic infantile 2 months M died at 33.8 months + - - 1 Caucasian
PubMed c.2560C>T exon 12 c.1754G>A Childhood or Adult Childhood or Adult unknown >10 years - 1 USA
PubMed c.2560C>T exon 13 c.1834C>T Classic infantile Classic infantile 3 months M 8 months + + 1 Brazil
PubMed c.2560C>T exon 2 c.525del Classic infantile Classic infantile <10 days F 12 days + + + 1 African American
PubMed c.2560C>T exon 18 c.2501_2502del Classic infantile Classic infantile 2 months/2 months F/ F 6 months/5 months +/+ -/+ 2 Brazil
PubMed c.2560C>T exon 14 c.1935C>A Classic infantile Adult 25 years F 30 years 1 African american
PubMed c.2560C>T exon 18 c.2560C>T Classic infantile unknown unknown (5) unknown (5) 5 Africa (2)/African American (3)
PubMed c.2560C>T exon 20 c.2846T>A Childhood unknown unknown 3 months 1 Africa
PubMed c.2560C>T second mutation is not reported unknown unknown (3) unknown/ F/ M 2m/6wks/6m 3 Africa (1)/African American (2)
PubMed c.2560C>T intron 1B c.-32-13T>G Childhood or Adult Childhood 2nd decade unknown 1 Caucasian
PubMed c.2560C>T exon 18 c.2560C>T Classic infantile unknown 3 months unknown 1 Pakistan
PubMed c.2560C>T exon 18 c.2560C>T Classic infantile Classic infantile 3 months F 9 months + + + 1 Brazil
PubMed c.2560C>T intron 17 c.2481+102_2646+31del Classic infantile Classic infantile at birth M 5 months + + 1 Brazil
PubMed c.2560C>T exon 18 c.2560C>T Classic infantile Classic infantile birth/birth/2 months F/ M/ F 7/4/5 months +/+/+ -/-/+ +/-/- 3 Brazil
PubMed c.2560C>T intron 1B c.-32-13T>G Childhood or Adult Adult 28 years/35 years F/ M 41 years/55 years - 2 Brazil
PubMed c.2560C>T intron 1B c.-32-13T>G Childhood or Adult Adult 27 years M 31 years - - + - + 1 Colombia
PubMed c.2560C>T second mutation is not reported Childhood 10 years/15 years M/ M 19 years/20 years -/- -/- + at night/+ +/+ -/+ +/+ 2 Colombia
PubMed c.2560C>T exon 18 c.2560C>T Classic infantile Classic infantile 4,5 months F 19 months + - 1 African American
PubMed c.2560C>T exon 18 c.2560C>T Classic infantile Classic infantile <4 months F 4 months + 1 Arab
PubMed c.2560C>T exon 18 c.2560C>T Classic infantile Classic infantile <7 weeks M 5 weeks + 1 African American
PubMed c.2560C>T exon 7 c.1165del Classic infantile or Childhood unknown <2 years unknown 1 unknown
PubMed c.2560C>T exon 12 c.1710C>G Classic infantile Classic infantile <26 weeks M 6.9 months + - - 1 unknown
PubMed c.2560C>T exon 12 c.1654del Classic infantile Classic infantile <1 year 1 USA
PubMed c.2560C>T exon 12 c.1655T>C Classic infantile Classic infantile <1 year 1 USA
PubMed c.2560C>T exon 8 c.1292_1295dup Classic infantile Classic infantile <1 year 1 USA
PubMed c.2560C>T exon 18 c.2560C>T Classic infantile Classic infantile <1 year 7 USA
PubMed c.2560C>T exon 7 c.1129G>C Classic infantile Classic infantile <1 year 1 USA
PubMed c.2560C>T exon 12 c.1710C>G Classic infantile Classic infantile <1 year 1 USA
PubMed c.2560C>T exon 16 c.2236T>C Classic infantile Classic infantile <1 year 1 USA
PubMed c.2560C>T exon 17 c.2459_2461del Unknown (disease-associated) Classic infantile <1 year 1 USA
PubMed c.2560C>T intron 1B c.-32-13T>G Childhood or Adult Childhood or Adult Adult 1 USA
PubMed c.2560C>T intron 1B c.-32-13T>G Childhood or Adult Childhood/ Adult 15 years/40 years M/F 17 years/63 years 2 Brazil
PubMed c.2560C>T exon 8 c.1320_1322del Unknown (disease-associated) Classic infantile ~3.4 months F ~4.9 months + + 1 Northern China
PubMed c.2560C>T exon 18 c.2560C>T Classic infantile Classic infantile 1 month M 1 month + + 1 Nigeria
PubMed c.2560C>T intron 1B c.-32-13T>G Childhood or Adult Adult 48 years M 50 years - + + + 1 Costa Rica
PubMed c.2560C>T exon 14 c.1942G>A Classic infantile Classic infantile <1 years <1 years + + 9 French Guiana
PubMed c.2560C>T exon 18 c.2560C>T Classic infantile Classic infantile <1 years <1 years + + 1 French Guiana
PubMed c.2560C>T second mutation is not reported Classic infantile <1 years <1 years + + 1 French Guiana
PubMed c.2560C>T intron 1B c.-32-13T>G Childhood or Adult Adult 25 years F 55 years - - - - + 1 Brazil
PubMed c.2560C>T intron 1B c.-32-13T>G Childhood or Adult Adult M 41 years 1 USA
PubMed c.2560C>T exon 4 c.853C>T Childhood or Adult Adult F 40 years 1 USA
PubMed c.2560C>T exon 16 c.2297A>G Childhood or adult Childhood or Adult 1 USA
PubMed c.2560C>T exon 4 c.705G>A Unknown (found only in NBS) NBS NBS 1 Japan
PubMed c.2560C>T second mutation is not reported NBS NBS 1 USA
PubMed c.2560C>T exon 18 c.2560C>T Classic infantile Classic infantile <12 months + 0
PubMed c.2560C>T second mutation is not reported Classic infantile <12 months + 1 Northern India
PubMed c.2560C>T exon 4 c.705G>A Unknown (found only in NBS) NBS NBS 1 Japan
PubMed c.2560C>T intron 1B c.-32-13T>G Childhood or Adult Childhood 10 years M 10y + 1 USA
PubMed c.2563G>C exon 7 c.1115A>T Classic infantile Classic infantile ~3.4 months M ~4.9 months + + 1 Northern China

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