Pompe disease GAA variant database
Displaying 1651 - 1700 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.1636+1G>C intron 1B c.-32-13T>G Childhood or Adult Adult 28 years 49 years - vital capacity in sitting/supine position: 2.49L/1,47L - - 1 France
PubMed c.1636+1G>C intron 1B c.-32-13T>G Childhood or Adult Adult ranging 20 to 36 years 5 France
PubMed c.1636+5G>T intron 1B c.-32-13T>G Childhood or Adult Adult unknown 59 years 1 UK
PubMed c.1636+5G>A second mutation is not reported Classic infantile <12 months + 1 Northern India
PubMed c.1636+5G>C second mutation is not reported Classic infantile <12 months F unknown 1 Italy
c.1636+43G>T not disease-associated 0
c.1636+117del not disease-associated 0
c.1636+117C>T not disease-associated 0
c.1636+118G>T not disease-associated 0
c.1636+205C>T not disease-associated 0
c.1636+210G>A not disease-associated 0
c.1636+269C>T not disease-associated 0
c.1636+284G>C not disease-associated 0
c.1636+389C>G not disease-associated 0
c.1636+390A>G not disease-associated 0
c.1636+404A>G not disease-associated 0
c.1637-185A>G not disease-associated 0
PubMed c.1637-2A>G intron 11 c.1637-2A>G Classic infantile Classic infantile prenatal M 2 years + 1 Germany
PubMed c.1637-2A>G intron 11 c.1637-2A>G Classic infantile Classic infantile <12 months + 0
PubMed c.1642G>T intron 1B c.-32-13T>G Childhood or Adult Adult 27 years F 63 years + + + 1 Caucasian
PubMed c.1642G>T intron 1B c.-32-13T>G Childhood or Adult Adult 30 years F 40 years 1 USA
PubMed c.1642G>T exon 2 c.525del Classic infantile Childhood NBS M NBS 1 USA
PubMed c.1645G>A second mutation is not reported Childhood 3 years? unknown 1 Netherlands
PubMed c.1645G>C intron 3 c.692+1G>C Unknown (disease-associated) asymptomatic asymptomatic F 12 years - - - - - - - - - - 1 Italy
PubMed c.1650dup intron 2 c.546+2_546+5del Classic infantile Classic infantile at birth M/ F 4.5 years/2 years +/+ 2 African American
PubMed c.1650dup intron 2 c.546+2_546+5del Classic infantile Classic infantile <1 year 2 USA
PubMed c.1650del intron 1B c.-32-13T>G Childhood or Adult Adult M/F 26 years /34 years +/+ 2 Iran
PubMed c.1650del intron 1B c.-32-13T>G Childhood or Adult Childhood 7 years /7 years F/M 30 years /23 years - +/+ +/+ -/- 2 Iran
PubMed c.1654del second mutation is not reported unknown <2 years unknown 1 Caucasian
PubMed c.1654del exon 18 c.2560C>T Classic infantile Classic infantile <1 year 1 USA
PubMed c.1655T>C intron 1B c.-32-3C>A Childhood Classic infantile <6 months M unknown + 1 Italy
PubMed c.1655T>C exon 2 c.377G>A Classic infantile Childhood 2 years F 10 years - + 1 Brazil
PubMed c.1655T>C exon 2 c.377G>A Classic infantile Childhood 14 years/5 years 20 years/11 years valvular myopathy (2) +/+ 2 Brazil
PubMed c.1655T>C exon 4 c.854C>G Childhood Childhood 1 year M 2.5 years + + + + 1 Germany
PubMed c.1655T>C exon 6 c.989G>A Unknown (disease-associated) Childhood 5-6 months/5-6 months M/ F died at 3 years (2) moderate left ventricular non-obstructive hypertophy (2) +/+ +/+ +/+ 2 Italy
PubMed c.1655T>C exon 9 c.1333G>C Childhood Childhood 3 years F 16 years + + + + 1 Italy
PubMed c.1655T>C exon 10 c.1478C>T Adult Adult 27 years F 34 years - 1 Germany
PubMed c.1655T>C intron 14 c.2041-2A>C Classic infantile Classic infantile <1 year <1.5 years + 1 Germany
PubMed c.1655T>C exon 18 c.2600_2604delinsA Classic infantile or Childhood unknown 6 months unknown 1 Spain
PubMed c.1655T>C intron 1B c.-32-13T>G Childhood or Adult Childhood 6 years unknown 1 Spain
PubMed c.1655T>C exon 12 c.1655T>C Classic infantile Classic infantile <2 months F unknown + 1 Italy
PubMed c.1655T>C exon 16 c.2237G>A Classic infantile Classic infantile <2 months M unknown + 1 Italy
PubMed c.1655T>C exon 17 c.2432del Classic infantile Classic infantile <8 months M unknown + 1 Italy
PubMed c.1655T>C intron 1B c.-32-13T>G Childhood or Adult Adult 20 years M 38 years + + 1 Germany
PubMed c.1655T>C exon 14 c.1941C>G Classic infantile Classic infantile at birth M 12 months + + 1 Brazil
PubMed c.1655T>C exon 12 c.1655T>C Classic infantile Childhood 18 months M 21 months - + + 1 Brazil
PubMed c.1655T>C intron 1B c.-32-13T>G Childhood or Adult Adult 35 years F 45 years 1 Germany
PubMed c.1655T>C intron 1B c.-32-13T>G Childhood or Adult Childhood or Adult unknown F 29 years 1 Italy
PubMed c.1655T>C exon 12 c.1704C>G Adult Adult 22 years F 25 years - - - 1 Caucasian
PubMed c.1655T>C exon 13 c.1856G>A Childhood or Adult Childhood 8-18 months F 23 months - + + 1 Greece

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

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