Pompe disease GAA variant database
Displaying 651 - 700 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.340_341insT exon 2 c.340_341insT Classic infantile Classic infantile 8 weeks F 16 weeks + - 1 Caucasian
PubMed c.340_341insT exon 2 c.340_341insT Classic infantile Classic infantile <12 months + 0
PubMed c.343C>T exon 10 c.1445C>T Unknown (disease-associated) Childhood 2 years unknown + 1 Spain
PubMed c.343C>T intron 6 c.1076-1G>C Classic infantile Adult unknown 34 years + 1 Spain
PubMed c.352C>T second mutation is not reported unknown <2 years unknown 1 Caucasian
c.363G>A unknown 0
PubMed c.364A>G exon 13 c.1796C>T Unknown (disease-associated) Childhood (1)/ Adult (1) 27 years/6 years M/ F 29 years/31 years -/- MRI:mild/MRI:moderate 2 Poland
PubMed c.364A>G exon 13 c.1796C>T Unknown (disease-associated) Childhood/ Adult 6 years / 27 years F /M 33 years/ 30 years 2 Poland
PubMed c.365del second mutation is not reported Childhoor or Adult >12 years N.A. 0
PubMed c.365T>A exon 14 c.1925T>A Unknown (found only in NBS) NBS NBS 1 USA
PubMed c.377G>A exon 2 c.236_246del Classic infantile Classic infantile 2 months M died at 10 months + + - 1 Spanish-Italian
PubMed c.377G>A exon 2 c.377G>A Classic infantile Classic infantile 3 months F died at 8 months + + - + 1 Italy
PubMed c.377G>A intron 1B c.-32-13T>G Childhood or Adult Childhood (1)/ Adult (2) 46 years/20 years/15 years M/ M/ F unknown (3) +/+/- +/+/unknown +/+/+ 3 Italy
PubMed c.377G>A exon 18 c.2501_2502del Classic infantile Classic infantile at birth F 9 months + + 1 Brazil
PubMed c.377G>A exon 12 c.1655T>C Classic infantile Childhood 2 years F 10 years - + 1 Brazil
PubMed c.377G>A exon 12 c.1655T>C Classic infantile Childhood 14 years/5 years 20 years/11 years valvular myopathy (2) +/+ 2 Brazil
PubMed c.378G>A exon 16 c.2237G>A Classic infantile Classic infantile 3.5 months F died at <18.7 months + 1 South China
PubMed c.379_380del intron 17 c.2481+102_2646+31del Classic infantile Classic infantile unknown F unknown + 1 Netherlands
PubMed c.379_380del intron 1B c.-32-13T>G Childhood or Adult Adult 42 years F 43 years arrhythmias - - - 1 Caucasian
PubMed c.379_380del second mutation is not reported Classic/ Childhood or Adult <12 months/ >12 years +, N.A. 0
PubMed c.379_380del intron 1B c.-32-13T>G Childhood or Adult Adult 18 female 20 1 Dutch
PubMed c.379_380del intron 1B c.-32-13T>G Childhood or Adult Adult 28 female 24 1 Dutch
PubMed c.379_380del intron 1B c.-32-13T>G Childhood or Adult Adult 52 female 61 1 Dutch
PubMed c.379_380del intron 1B c.-32-13T>G Childhood or Adult Adult 50 female 54 1 Dutch
PubMed c.379_380del intron 1B c.-32-13T>G Childhood or Adult Adult 44 female 51 + 1 Dutch
PubMed c.379_380del intron 1B c.-32-13T>G Childhood or Adult Adult 36 39 1 Unknown
PubMed c.379_380del intron 1B c.-32-13T>G Childhood or Adult Adult 26 46 1 Unknown
PubMed c.379_380del intron 1B c.-32-13T>G Childhood or Adult Adult 50 69 1 Unknown
PubMed c.379_380del intron 1B c.-32-13T>G Childhood or Adult Adult 44 49 1 Unknown
PubMed c.380G>A second mutation is not reported Childhood or Adult 1 France
PubMed c.380G>A second mutation is not reported Childhoor or Adult >12 years N.A. 0
PubMed c.380G>T exon 6 c.1064T>C Classic infantile or Childhood Childhood 1 year F died at 5 years + + + + + 1 Portugal
PubMed c.397T>G intron 1B c.-32-13T>G Childhood or Adult Childhood 35 years F 38 years - 1 Poland
PubMed c.399C>A exon 2 c.399C>A Classic infantile Classic infantile at birth F died at 8 months + + 1 Italy
PubMed c.421C>A exon 9 c.1411_1414del Classic infantile Classic infantile 7 months died 1 Taiwan
PubMed c.424_440del exon 4 c.811A>G/ Asian pseudodeficiency allele Unknown (found only in NBS) Childhood 11-14 months F NBS - 1 Taiwan
PubMed c.424_440del exon 2 c.533G>A/ Asian pseudodeficiency allele Unknown (found only in NBS) unknown unknown F NBS - 1 Taiwan
PubMed c.424_440del exon 13 c.[1840A>G; c.2647-23del] Unknown (found only in NBS) NBS NBS 1 Taiwan
PubMed c.437del exon 16 c.2237G>A Classic infantile Classic infantile <1 year 1 USA
PubMed c.437del intron 17 c.2481+102_2646+31del Classic infantile Classic infantile <1 year 1 USA
PubMed c.444C>G exon 16 c.2238G>C Childhood or Adult Adult 23 years F 28 years - + + + + 1 Malaysian Chinese
PubMed c.445A>C intron 1B c.-32-13T>G Childhood or Adult Childhood 2,5 years M - - 1 Portugal
c.447G>A not disease-associated 0
PubMed c.460_465del second mutation is not reported unknown <2 years unknown 1 unknown
PubMed c.460_465del exon 9 c.1411_1414del Classic infantile Classic infantile <1 year 1 USA
PubMed c.461G>C exon 16 c.2227C>T Unknown (disease-associated) Childhood 2 years F died at 4y,4m + + + 1 Italy
PubMed c.461_469del intron 1B c.-32-13T>G Childhood or Adult Adult 35 43 1 Unknown
PubMed c.482_483del intron 1B c.-32-13T>G Childhood or Adult Adult 34 years F 68 years - - + + - 1 France
PubMed c.482_483del intron 1B c.-32-3C>A Childhood Childhood 16 years F 28 years + + + + 1 France
PubMed c.482_483del intron 1B c.-32-13T>G Childhood or Adult Adult >19 years F/ F unknown 2 France

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