Pompe disease GAA variant database
Displaying 301 - 350 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 exon 18 c.2530_2541del Unknown (disease-associated) Adult 33 years 64 years - 1 Italy
PubMed c.-32-13T>G exon 13/ exon 12 c.[1880C>T; c.1642G>T] Classic infantile/ Unknown (disease-associated) Adult 30 years F 40 years 1 USA
PubMed c.-32-13T>G exon 2 c.525del Classic infantile Adult 34 years F 39 years 1 USA
PubMed c.-32-13T>G exon 14 c.1912G>T Classic infantile Adult F 36 years + 1 USA
PubMed c.-32-13T>G exon 18 c.2608C>T Classic infantile Childhood Presymptomatic M/F 6/4 years 2 USA
PubMed c.-32-13T>G exon 2 c.236_246del Classic infantile Childhood NBS M/F NBS +/+ 2 Marocco
PubMed c.-32-13T>G second mutation is not reported NBS NBS M/F NBS 2 Italy/Nepal
PubMed c.-32-13T>G exon 6 c.1004G>A  Unknown (disease-associated) Childhood 2 years F 26 years - + + - 1 Iran
PubMed c.-32-13T>G exon 12 c.1650del Unknown (disease-associated) Childhood 7 years/7 years F/M 30 years/23 years - +/+ +/+ -/- 2 Iran
PubMed c.-32-13T>G exon 19 c.2662G>T Classic infantile Adult 20 years M 23 years - + + - 1 Iran
PubMed c.-32-13T>G exon 15 c.2078dup Classic infantile Adult 27 years/25 years F/M 32 years/40 years - +/+ +/+ -/- 2 Iran
PubMed c.-32-13T>G exon 13 c.1799G>A Classic infantile Adult 28 years F 35 years - - - - 1 Iran
PubMed c.-32-13T>G exon 18 c.2596del Unknown (disease-associated) Adult 38 years M 50 years/36 years - + + - 1 Iran
PubMed c.-32-13T>G exon 18 c.2560C>T Classic infantile Adult 25 years F 55 years - - - - + 1 Brazil
PubMed c.-32-13T>G Asian pseudodeficiency allele NBS NBS M NBS - - - - - - - - - - 1 Brazil
PubMed c.-32-13T>G exon 12 c.1670T>G Unknown Asymptomatic Asymptomatic M 16 years - - - 1 Italy
PubMed c.-32-13T>G intron 1B c.-32-13T>G Childhood or Adult Adult ranging 25 to 40 years 3 France
PubMed c.-32-13T>G intron 17 c.2481+102_2646+31del Classic infantile Childhood/ Adult ranging 7 to 69 years 24 France
PubMed c.-32-13T>G exon 14 c.1927G>A Classic infantile Childhood/ Adult ranging 15 to 60 years 5 France
PubMed c.-32-13T>G exon 3 c.655G>A Classic infantile Adult ranging 31 to 55 years 7 France
PubMed c.-32-13T>G exon 2 c.525del Classic infantile Adult ranging 10 to 35 years 5 France
PubMed c.-32-13T>G exon 12 c.1655T>C Classic infantile Childhood/ Adult ranging 3 to 50 years 4 France
PubMed c.-32-13T>G exon 6 c.1047del Unknown (disease-associated) Childhood/ Adult ranging 9 to 46 years 5 France
PubMed c.-32-13T>G exon 2 c.118C>T Classic infantile Adult ranging 20 to 60 years 5 France
PubMed c.-32-13T>G exon 3 c.573C>A Classic infantile Adult ranging 30 to 57 years 4 France
PubMed c.-32-13T>G exon 10 c.1548G>A Classic infantile Childhood/ Adult ranging 12 to 40 years 5 France
PubMed c.-32-13T>G exon 13 c.1799G>A Classic infantile Adult ranging 44 to 57 years 3 France
PubMed c.-32-13T>G intron 11 c.1636+1G>C Unknown (disease-associated) Adult ranging 20 to 36 years 5 France
PubMed c.-32-13T>G exon 14 c.1927G>A Classic infantile Childhood 15 years/NA F/M 37 years/7 years 2 France
PubMed c.-32-13T>G exon 2 c.525del Classic infantile Childhood NA/ 10 years F/F 12 years/21 years 2 France
PubMed c.-32-13T>G intron 17 c.2481+102_2646+31del Classic infantile Childhood 2 years/9 years M/F 14 years/7 years 2 France
PubMed c.-32-13T>G exon 10 c.1548G>A Classic infantile Childhood 12 years F 51 years 1 France
PubMed c.-32-13T>G intron 10 c.1551+1G>T Unknown (disease-associated) Childhood 15 years M 28 years 1 France
PubMed c.-32-13T>G exon 13 c.1844_1846del Unknown (disease-associated) Childhood 16 years M 49 years 1 France
PubMed c.-32-13T>G exon 15 c.2182_2183del Unknown (disease-associated) Childhood 14 years M 37 years 1 France
PubMed c.-32-13T>G Exon 2 c.205C>T Unknown (disease-associated) Childhood 9 years F 6 years 1 France
PubMed c.-32-13T>G exon 19 c.2757del Unknown (disease-associated) Childhood 15 years M 40 years 1 France
PubMed c.-32-13T>G exon 6 c.1047del Unknown (disease-associated) Childhood 9 years M 19 years 1 France
PubMed c.-32-13T>G exon 2 c.502C>T Unknown (disease-associated) Childhood 2 years M 3 years 1 France
PubMed c.-32-13T>G second mutation is not reported Childhood 13 years F 43 years 1 France
PubMed c.-32-13T>G exon 7 c.1124G>T Classic infantile Adult 61 years F 61 years 1 USA
PubMed c.-32-13T>G exon 15 c.2140del Unknown (disease-associated) Adult 79 years F 79 years 1 USA
PubMed c.-32-13T>G exon 2 c.525del Classic infantile Adult ranging 18 to 56 years F/F/M/M/F 33/56/80/18/56 years 5 USA
PubMed c.-32-13T>G exon 14 c.1912G>T Classic infantile Adult 71 years M 71 years 1 USA
PubMed c.-32-13T>G exon 18 c.2512C>T Classic infantile Adult 54 years 54 years 1 USA
PubMed c.-32-13T>G intron 17 c.2481+102_2646+31del Classic infantile Adult ranging 18 to 61 years M/M/F/M/F 66/70/44/18/61 years 5 USA
PubMed c.-32-13T>G exon 16 c.2238G>A Classic infantile Adult 40 years M 40 years 1 USA
PubMed c.-32-13T>G exon 12 c.1655T>C Classic infantile Adult 59 years M 59 years 1 USA
PubMed c.-32-13T>G exon 13 c.1841C>A Unknown (disease-associated) Adult 53 years F 53 years 1 USA
PubMed c.-32-13T>G exon 7 c.1143del Unknown (disease-associated) Adult 68 years M 68 years 1 USA

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