Pompe disease GAA variant database
Displaying 51 - 100 of 2717
Link to
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 2 c.307T>G Classic infantile Adult 43 years M 48 years + at night + - - 1 Germany
PubMed c.-32-13T>G exon 2 c.307T>G Classic infantile Childhood 7.5 years M 8 years - 1 Greece
PubMed c.-32-13T>G exon 2 c.377G>A Classic infantile Childhood (1)/ Adult (2) 46 years/20 years/15 years M/ M/ F unknown (3) +/+/- +/+/unknown +/+/+ 3 Italy
PubMed c.-32-13T>G exon 2 c.379_380del Classic infantile Adult 42 years F 43 years arrhythmias - - - 1 Caucasian
PubMed c.-32-13T>G exon 2 c.482_483del Unknown (disease-associated) Adult 34 years F 68 years - - + + - 1 France
PubMed c.-32-13T>G exon 2 c.482_483del Unknown (disease-associated) Adult >19 years F/ F unknown 2 France
PubMed c.-32-13T>G exon 2 c.525del Classic infantile Childhood (1)/ Adult (2) unknown (3) F/ F/ M unknown (3) 3 Italy
PubMed c.-32-13T>G exon 2 c.525del Classic infantile Childhood (1)/ Adult (1) 10 years/adulthood unknown (2) 2 Caucasian (1)/Anglo-Canadian (1)
PubMed c.-32-13T>G exon 2 c.525del Classic infantile Adult 30 years 48 years + + 1 Germany
PubMed c.-32-13T>G exon 2 c.525del Classic infantile Childhood 14 years M 27 years - + 1 Brazil
PubMed c.-32-13T>G exon 2 c.525del Classic infantile Adult (4)/ unknown (2) 20-38 years (4)/ asymptomatic (2) F (3)/ M (3) 32-72 years + (3)/- (3) + (2)/ - (2)/unknown (2) + (2)/- (4) 6 Caucasian
PubMed c.-32-13T>G exon 2 c.525del Classic infantile Childhood 12 years F 29 years - - - - - + 1 Colombia
PubMed c.-32-13T>G exon 2 c.546G>C Unknown (disease-associated) Adult unknown 65 years ischemic cardiopathy + 1 Spain
PubMed c.-32-13T>G intron 2 c.546+1G>T Unknown (disease-associated) Adult 41 years/42 years F/ F 42 years/47 years -/- 2 Italy
PubMed c.-32-13T>G exon 3 c.623T>C Unknown (disease-associated) Adult 29 years M 34 years - - + + 1 South America
PubMed c.-32-13T>G exon 3 c.634G>T Unknown (disease-associated) Childhood 10 years F 15 years - 1 Brazil
PubMed c.-32-13T>G exon 3 c.655G>A Classic infantile Adult 34 years M 62 years + + + 1 France
PubMed c.-32-13T>G exon 3 c.655G>A Classic infantile asymptomatic asymptomatic M 2 years Bilateral calf hypertrophy 1 France
PubMed c.-32-13T>G intron 3 c.692+1G>C Unknown (disease-associated) Childhood or Adult unknown F 26 years 1 Italy
PubMed c.-32-13T>G exon 4 c.719T>C Adult Adult 25 years M 33 years - - - - - - 1 France
PubMed c.-32-13T>G exon 4 c.737T>G Unknown (disease-associated) unknown unknown M 9 years 1 Italy
PubMed c.-32-13T>G exon 4 c.743T>G Unknown (disease-associated) Adult 43 years M 53 years - - - - - - 1 France
PubMed c.-32-13T>G exon 4 c.784G>A Classic infantile Adult 30 years F 72 years - + 1 Caucasian
PubMed c.-32-13T>G exon 4 c.794del Classic infantile Adult 35 years 37 years - + 1 Germany
PubMed c.-32-13T>G exon 4 c.836G>A Unknown (disease-associated) Adult 26 years M 40 years + at night + + + 1 Argentina
PubMed c.-32-13T>G exon 4 c.844G>C Unknown (disease-associated) Adult 34-39 years M 64 years + + + + + 1 Caucasian
PubMed c.-32-13T>G exon 5 c.875A>G Classic infantile Adult unknown 60 years + 1 Spain
PubMed c.-32-13T>G exon 5 c.877G>A Classic infantile Adult 48 years 46 years 1 Italy
PubMed c.-32-13T>G exon 5 c.877G>A Classic infantile Adult 20 years/55 years 42 years/53 years +/+ 2 Germany
PubMed c.-32-13T>G exon 5 c.877G>A Classic infantile Childhood 13 years 51 years - + + 1 Germany
PubMed c.-32-13T>G exon 5 c.896T>C Classic infantile Adult unknown unknown 1 Caucasian
PubMed c.-32-13T>G exon 5 c.896T>C Classic infantile Adult 21 years/unknown M/ F 35 years/37 years -/- +/- -/- -/- 2 Turkey
PubMed c.-32-13T>G exon 5 c.896T>C Classic infantile Childhood 17 years M 34 years - - - 1 unknown
PubMed c.-32-13T>G exon 5 c.923A>C Classic infantile asymptomatic asymptomatic F 48 years 1 France
PubMed c.-32-13T>G exon 5 c.925G>A Classic infantile Adult unknown unknown 1 Netherlands
PubMed c.-32-13T>G exon 5 c.925G>A Classic infantile Adult unknown F unknown 1 Italy
PubMed c.-32-13T>G exon 5 c.925G>A Classic infantile Childhood 2 years and 6 months unknown 1 Spain
PubMed c.-32-13T>G exon 5 c.925G>A Classic infantile Adult 52 years F 66 years + 1 Greece
PubMed c.-32-13T>G exon 6 c.1003G>A Classic infantile Adult >30 years/>30 years M/ M 59 years/54 years -/- + at night/- VC standing 1.4L/VC standing 2.8L -/- 2 Denmark
PubMed c.-32-13T>G exon 6 c.1048G>A Unknown (disease-associated) Adult 46 years M 52 years - - - - - ischemic stroke 1 Caucasian
PubMed c.-32-13T>G exon 6 c.1048G>A Unknown (disease-associated) asymptomatic asymptomatic F 51 years 1 France
PubMed c.-32-13T>G exon 6 c.1051del Unknown (disease-associated) Adult 63 years 68 years - + + - 1 Germany
PubMed c.-32-13T>G exon 6 c.1064T>C Classic infantile or Childhood Childhood 15 years M 15 years - + + - - 1 Caucasian
PubMed c.-32-13T>G exon 6 c.1075G>A Unknown (disease-associated) Adult 49 years F 55 years - - + 1 Caucasian
PubMed c.-32-13T>G intron 6 c.1076-1G>A Unknown (disease-associated) Adult 34 years 36 years + 1 Germany
PubMed c.-32-13T>G intron 6 c.1076-1G>C Classic infantile Adult unknown M unknown 1 Italy
PubMed c.-32-13T>G intron 6 c.1076-1G>C Classic infantile Adult 50 years/ 67 years M/ M 60 years/72 years -/+ VC% in a sitting position 58 %/43% +/+ 2 Caucasian
PubMed c.-32-13T>G exon 7 c.1100G>A Unknown (disease-associated) Childhood childhood unknown 1 Caucasian
PubMed c.-32-13T>G exon 7 c.1115A>T Classic infantile Childhood (1)/ Adult (1) 16 years/50 years 32 years/58 years +/+ 2 Germany
PubMed c.-32-13T>G exon 7 c.1143del Unknown (disease-associated) Adult 43 years/63 years M/ M 48 years/65 years -/- -/- 2 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