Pompe disease GAA variant database
Displaying 1451 - 1500 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.1397T>G exon 14 c.1978C>T Classic infantile Childhood 7 years M 9 years - + 1 Indoamerican-Spanish
PubMed c.1402A>T intron 1B c.-32-13T>G Childhood or Adult Childhood or Adult 1 USA
PubMed c.1402A>T intron 1B c.-32-13T>G Childhood or Adult Childhood or Adult 1 USA
PubMed c.1408_1410del exon 8 c.1222A>G Classic infantile Classic infantile 2 months/at birth M/ unknown died at < 2y/unknown +/+ +/+ 2 Spain
PubMed c.1408_1410del exon 9 c.1408_1410del Classic infantile Classic infantile M 18 months on ERT + (Mild) + + 1 Turkey
PubMed c.1409A>G second mutation is not reported Childhood or Adult >12 years N.A. 1
PubMed c.1409A>C exon 8 c.1216G>A Unknown (found only in NBS) NBS NBS 1 Hungary
PubMed c.1411_1414del exon 2 c.421C>A Classic infantile Classic infantile 7 months died 1 Taiwan
PubMed c.1411_1414del exon 14 c.1935C>A Classic infantile Classic infantile 2 months/2 months M/ F died at 4m/died at 7m +/+ +/+ 2 China
PubMed c.1411_1414del exon 13 c.1843G>A Classic infantile unknown unknown unknown 1 China
PubMed c.1411_1414del exon 14 c.1935C>A Classic infantile Classic infantile 3 months/ unknown/unknown died at 6m/NBS/NBS 3 Taiwan
PubMed c.1411_1414del exon 14 c.1935C>A/ Asian pseudodeficiency allele Classic infantile Classic infantile <1 month F NBS + 1 Taiwan
PubMed c.1411_1414del exon 14 c.1935C>A/ Asian pseudodeficiency allele Classic infantile Classic infantile 2 months M 7 years + 1 Taiwan
PubMed c.1411_1414del exon 14 c.1935C>A Classic infantile Classic infantile <26 days NBS + - 1 Taiwan
PubMed c.1411_1414del exon 14 c.1935C>A Classic infantile Classic infantile 3-6 months/3-6 months unknown (2) +/+ +/+ 2 Taiwan
PubMed c.1411_1414del exon 14 c.2014C>T Childhood or Adult Adult 20 years M 29 years - - 1 Hong Kong
PubMed c.1411_1414del exon 2 c.460_465del Classic infantile Classic infantile <1 year 1 USA
PubMed c.1411_1414del exon 14 c.2024_2026del Classic infantile Classic infantile ~3.4 months M/M ~4.9 months +/+ +/+ 2 Southern China
PubMed c.1411_1414del exon 17 c.2377_2378insAC Classic infantile Classic infantile ~3.4 months M ~4.9 months + + 1 Southern China
PubMed c.1411_1414del exon 14 c.1933G>C Classic infantile Classic infantile 3 months 5 months + + 1 Thailand
PubMed c.1431del exon 9 c.1431del Classic infantile Classic infantile 2d M 10 months + + + - 1 Saudi Arabia
PubMed c.1432G>A second mutation is not reported Classic infantile <1 year <1.5 years + 1 Netherlands
PubMed c.1432G>A intron 1B c.-32-13T>G Childhood or Adult Adult unknown unknown 1 Spain
PubMed c.1432G>A exon 13 c.1802C>T Classic infantile Classic infantile ~3.4 months F ~4.9 months + + 1 Southern China
PubMed c.1437G>C exon 14 c.1935C>A Classic infantile Classic infantile 8 months died at 10 months 1 Taiwan
PubMed c.1437G>C intron 8 c.1327-2A>G Classic infantile Classic infantile 3 months 5 months + + 1 Thailand
PubMed c.1437G>A exon 9 c.1437G>A Unknown (disease-associated) Adult unknown M 37 years 1 UK
PubMed c.1437G>A exon 9 c.1437G>A Unknown (disease-associated) Classic infantile unknown died 1 unknown
PubMed c.1437G>A second mutation is not reported Childhood (1)/ Adult (2) 31 years/25 years/15 years M/ M/ F 41y/36y/48y -/-/- -/-/- +/-/- 3 unknown
PubMed c.1437G>A exon 9 c.1437G>A Unknown (disease-associated) Childhood <12 years + 0
PubMed c.1437+1G>A intron 9 c.1437+1G>A Classic infantile or Childhood unknown <2 years unknown 1 Hispanic
PubMed c.1437+2T>C exon 2 c.525del Classic infantile Classic infantile <12 months M unknown + 1 Italy
PubMed c.1437+2T>C intron 10 c.1551+1G>C Classic infantile Classic infantile unknown M 50 days 1 Italy
PubMed c.1437+2T>C intron 1B c.-32-13T>G Childhood or Adult Childhood 5 years M 13 years - - 1 USA
PubMed c.1437+2T>C intron 1B c.-32-13T>G Childhood or Adult Childhood 7 years M 11 years - Small fiber neuropathy 1 Caucasian
PubMed c.1437+2T>C intron 1B c.-32-13T>G Childhood or Adult Childhood Juvenile 1 USA
PubMed c.1437+2T>C intron 1B c.-32-13T>G Childhood or Adult Adult 20s years F 42 years - - N.A. + + (quad cane, wheelchair) - 1 Caucasian
c.1438-220A>G not disease-associated 0
c.1438-108G>A not disease-associated 0
c.1437+4G>C unknown 0
c.1438-19G>C not disease-associated 0
PubMed c.1438-2A>G intron 1B c.-32-13T>G Childhood or Adult Adult 42 years M unknown - - 1 Italy
PubMed c.1438-2A>G intron 5 c.955+1G>A Classic infantile Classic infantile birth F 5 days + - moderate periventricular white matter abnormalities 1 Italy
PubMed c.1438-1G>C intron 1B c.-32-13T>G Childhood or Adult Adult 40 years 44 years - - - - 1 Germany
PubMed c.1438-1G>C exon 12 c.1655T>C Classic infantile Classic infantile <1 year 1 USA
c.1438-1G>T no combination/ no patient data reported 0
PubMed c.1441del second mutation is not reported Classic infantile unknown unknown 1 African American
PubMed c.1441T>C intron 8 c.1326+1G>A Classic infantile Classic infantile unknown unknown 1 African American
PubMed c.1441T>C intron 1B c.-32-13T>G Childhood or Adult Childhood 6 years unknown 1 Germany
PubMed c.1441T>C intron 1B c.-32-13T>G Childhood or Adult Childhood Juvenile 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