Pompe disease GAA variant database
Displaying 201 - 250 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.-32-13T>G intron 17 c.2481+102_2646+31del Classic infantile Adult 39 years F 42 years + 1 Germany
PubMed c.-32-13T>G intron 17 c.2481+102_2646+31del Classic infantile Adult unknown (2) unknown (2) 2 unknown
PubMed c.-32-13T>G intron 17 c.2481+102_2646+31del Classic infantile Childhood (1)/ Childhood or Adult (1) <3 years/unknown M/ M unknown (2) 2 Italy
PubMed c.-32-13T>G intron 17 c.2481+102_2646+31del Classic infantile Adult 20 years/adulthood unknown 2 Caucasian (1)/Anglo-Canadian (1)
PubMed c.-32-13T>G intron 17 c.2481+102_2646+31del Classic infantile Childhood (1)/ Adult (2) childhood/42 years/26 years 30y/57y/29/y -/-/+ 3 Germany
PubMed c.-32-13T>G intron 17 c.2481+102_2646+31del Classic infantile Adult 32 years/30 years M/ M 53 years/60 years -/- -/- +/+ 2 France
PubMed c.-32-13T>G exon 18 c.2530_2541del Unknown (disease-associated) Adult unknown (3) 34y/34y/unknown FVC (%):86/82/unknown -/-/unknown -/-/unknown 3 Italy
PubMed c.-32-13T>G exon 18 c.2530_2541del Unknown (disease-associated) Adult 50 years F 59 years + + 1 Italy
PubMed c.-32-13T>G exon 18 c.2560C>T Classic infantile Adult 41 years M 50 years - + + + - 1 France
PubMed c.-32-13T>G exon 18 c.2560C>T Classic infantile Childhood 2nd decade unknown 1 Caucasian
PubMed c.-32-13T>G exon 18 c.2560C>T Classic infantile Adult 28 years/35 years F/ M 41 years/55 years - 2 Brazil
PubMed c.-32-13T>G exon 18 c.2560C>T Classic infantile Adult 27 years M 31 years - - + - + 1 Colombia
PubMed c.-32-13T>G exon 18 c.2605del Unknown (disease-associated) Childhood 15 years M died at 57 years + + + + 1 Italy
PubMed c.-32-13T>G exon 18 c.2608C>T Classic infantile Childhood 3 months M 3-7 months - + (BI-PAP) + + (bed-ridden) + + 1 unknown
PubMed c.-32-13T>G exon 18 c.2646_2646+1del Unknown (disease-associated) Adult unknown M unknown - 1 Italy
PubMed c.-32-13T>G intron 18 c.2647-20T>G Unknown (disease-associated) Childhood 14 years M 15 years + + 1 UK
PubMed c.-32-13T>G exon 19 c.2662G>T Classic infantile Childhood 12 years M 15 years - + + + + 1 Poland
PubMed c.-32-13T>G exon 19 c.2662G>T Classic infantile Adult 32 years F 33 years - 1 China
PubMed c.-32-13T>G exon 19 c.2738C>G Unknown (disease-associated) Childhood 3 years M 23 years FVC 25% 1 Germany
PubMed c.-32-13T>G exon 19 c.2746G>T Unknown (disease-associated) Adult 51 years M 50 years - Spirometry indicated moderate restriction - + + 1 Serbia
PubMed c.-32-13T>G exon 10 c.1445C>G Unknown (disease-associated) Childhood or Adult Adult 2 USA
PubMed c.-32-13T>G exon 2 c.525del Classic infantile Classic infantile <1 year 1 USA
PubMed c.-32-13T>G intron 9 c.1437+2T>C Classic infantile Childhood Juvenile 1 USA
PubMed c.-32-13T>G exon 5 c.953T>C Classic infantile Childhood Juvenile 1 USA
PubMed c.-32-13T>G exon 13 c.1796C>A Unknown (disease-associated) Childhood Juvenile 1 USA
PubMed c.-32-13T>G exon 9 c.1396dup Unknown (disease-associated) Childhood Juvenile 1 USA
PubMed c.-32-13T>G exon 7 c.1143del Unknown (disease-associated) Childhood Juvenile 1 USA
PubMed c.-32-13T>G exon 10 c.1441T>C Classic infantile Childhood Juvenile 1 USA
PubMed c.-32-13T>G exon 10 c.1445C>T Unknown (disease-associated) Childhood or Adult Adult 2 USA
PubMed c.-32-13T>G exon 10 c.1548G>A Classic infantile Childhood or Adult Adult 2 USA
PubMed c.-32-13T>G exon 12 c.1655T>C Classic infantile Childhood or Adult Adult 1 USA
PubMed c.-32-13T>G exon 13 c.1796C>T Unknown (disease-associated) Childhood or Adult Adult 1 USA
PubMed c.-32-13T>G exon 13 c.1827del Unknown (disease-associated) Childhood or Adult Adult 1 USA
PubMed c.-32-13T>G exon 13 c.1835A>C Unknown (disease-associated) Childhood or Adult Adult 1 USA
PubMed c.-32-13T>G exon 13 c.1880C>T Classic infantile or Childhood Childhood or Adult Adult 1 USA
PubMed c.-32-13T>G exon 16 c.2238G>A Classic infantile Childhood or Adult/ Childhood Adult / Juvenile 2 USA
PubMed c.-32-13T>G exon 16 c.2242dup Classic infantile Childhood or Adult Adult 1 USA
PubMed c.-32-13T>G intron 17 c.2481+102_2646+31del Classic infantile Childhood or Adult Adult 5 USA
PubMed c.-32-13T>G exon 18 c.2560C>T Classic infantile Childhood or Adult Adult 1 USA
PubMed c.-32-13T>G exon 18 c.2608C>T Classic infantile Childhood or Adult Adult 1 USA
PubMed c.-32-13T>G exon 2 c.525del Classic infantile Childhood or Adult Adult 4 USA
PubMed c.-32-13T>G exon 4 c.742del Classic infantile Childhood or Adult Adult 1 USA
PubMed c.-32-13T>G exon 4 c.743T>C Unknown (disease-associated) Childhood or Adult Adult 1 USA
PubMed c.-32-13T>G exon 4 c.784G>A Classic infantile Childhood or Adult Adult 3 USA
PubMed c.-32-13T>G exon 4 c.836G>A Unknown (disease-associated) Childhood or Adult Adult 1 USA
PubMed c.-32-13T>G exon 5 c.877G>A Classic infantile Childhood or Adult Adult 1 USA
PubMed c.-32-13T>G exon 5 c.925G>A Classic infantile Childhood or Adult Adult 2 USA
PubMed c.-32-13T>G exon 7 c.1143del Unknown (disease-associated) Childhood or Adult Adult 2 USA
PubMed c.-32-13T>G exon 18 c.2560C>T Classic infantile Childhood/ Adult 15 years/40 years M/F 17 years/63 years 2 Brazil
PubMed c.-32-13T>G intron 18 c.2646+2T>A Classic infantile Childhood 13 years M 25 years 1 Brazil

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