Pompe disease GAA variant database
Displaying 101 - 150 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 7 c.1192dup Unknown (disease-associated) Adult 31 years unknown 1 Spain
PubMed c.-32-13T>G intron 7 c.1194+2T>A Unknown (disease-associated) Childhood <4 years M unknown 1 Italy
PubMed c.-32-13T>G exon 8 c.1210G>A Classic infantile asymptomatic asymptomatic M 31 years - - - - - - - - - - 1 Caucasian
PubMed c.-32-13T>G exon 8 c.1291_1299del Unknown (disease-associated) Adult 23 years/29 years M/ F 58 years/71 years - FVC in sitting and suppine 76/68% / 101/81% +/- 2 Germany
PubMed c.-32-13T>G exon 8 c.1293_1312del Classic infantile Adult unknown unknown 1 unknown
PubMed c.-32-13T>G exon 8 c.1297C>A Unknown (disease-associated) Childhood 10 years F 28 years - + 1 Caucasian
PubMed c.-32-13T>G exon 8 c.1297C>A Unknown (disease-associated) Childhood 10 years F 31 years - + 1 Caucasian
PubMed c.-32-13T>G exon 9 c.1331C>G Unknown (disease-associated) Childhood unknown M 16-19 years - 1 Italy
PubMed c.-32-13T>G exon 9 c.1371del Unknown (disease-associated) Adult 18 years/22 years M/ M 18 years/22 years Wolf–Parkinson–White/- +/+ +/+ +/+ +/+ 2 Caucasian
PubMed c.-32-13T>G exon 9 c.1396del Classic infantile asymptomatic asymptomatic F 44 years 1 France
PubMed c.-32-13T>G exon 9 c.1432G>A Classic infantile Adult unknown unknown 1 Spain
PubMed c.-32-13T>G intron 9 c.1437+2T>C Classic infantile Childhood 5 years M 13 years - - 1 USA
PubMed c.-32-13T>G intron 9 c.1437+2T>C Classic infantile Childhood 7 years M 11 years - Small fiber neuropathy 1 Caucasian
PubMed c.-32-13T>G intron 9 c.1438-2A>G Classic infantile Adult 42 years M unknown - - 1 Italy
PubMed c.-32-13T>G intron 9 c.1438-1G>C Classic infantile Adult 40 years 44 years - - - - 1 Germany
PubMed c.-32-13T>G exon 10 c.1441T>C Classic infantile Childhood 6 years unknown 1 Germany
PubMed c.-32-13T>G exon 10 c.1456G>C Classic infantile Adult 21 years F 32 years - 1 Brazil
PubMed c.-32-13T>G exon 10 c.1460T>C Unknown (disease-associated) Adult 53 years M 73 years FVC in upright position 60% - - 1 Italy
PubMed c.-32-13T>G exon 10 c.1465G>A Classic infantile Adult adulthood M/ M unknown 2 Italy
PubMed c.-32-13T>G exon 10 c.1465G>A Classic infantile Childhood 17 years M 53 years + + + 1 Caucasian
PubMed c.-32-13T>G exon 10 c.1495T>A Unknown (disease-associated) Childhood Childhood 32 years + 1 Germany
PubMed c.-32-13T>G exon 10 c.1495T>A Unknown (disease-associated) Adult 32 years M 39 years - 1 Germany
PubMed c.-32-13T>G exon 10 c.1504A>G Unknown (disease-associated) asymptomatic asymptomatic F 28 years 1 Italy
PubMed c.-32-13T>G exon 10 c.1548G>A Classic infantile Childhood 10 years unknown 1 Netherlands
PubMed c.-32-13T>G exon 10 c.1548G>A Classic infantile Adult 48 years F 48 years - - 1 USA
PubMed c.-32-13T>G intron 10 c.1551+1G>C Classic infantile Adult unknown F 40 years + 1 Italy
PubMed c.-32-13T>G intron 10 c.1551+1G>C Classic infantile Adult 35 years M 45-50 years + 1 Italy
PubMed c.-32-13T>G intron 10 c.1551+1G>T Unknown (disease-associated) Childhood (1)/ Adult (1) 16 years/28 years F/ F 19 years/35 years +/+ 2 France
PubMed c.-32-13T>G exon 11 c.1561G>A Classic infantile or Childhood Adult 40 years F 61 years - + 1 Caucasian
PubMed c.-32-13T>G exon 11 c.1561G>A Classic infantile or Childhood Adult unknown F 58 years - - 1 Italy
PubMed c.-32-13T>G exon 11 c.1564C>G Classic infantile Adult 22 years F 34 years + + + + 1 Caucasian
PubMed c.-32-13T>G exon 11 c.1564C>A Unknown (disease-associated) Childhood 10 years unknown 1 Caucasian
PubMed c.-32-13T>G intron 11 c.1636+1G>C Unknown (disease-associated) Adult 28 years 49 years - vital capacity in sitting/supine position: 2.49L/1,47L - - 1 France
PubMed c.-32-13T>G intron 11 c.1636+5G>T Unknown (disease-associated) Adult unknown 59 years 1 UK
PubMed c.-32-13T>G exon 12/ exon 13 c.[1642G>T;c.1880C>T] Classic infantile/ Unknown (disease-associated) Adult 27 years F 63 years + + + 1 Caucasian
PubMed c.-32-13T>G exon 12 c.1655T>C Classic infantile Childhood 6 years unknown 1 Spain
PubMed c.-32-13T>G exon 12 c.1655T>C Classic infantile Adult 20 years M 38 years + + 1 Germany
PubMed c.-32-13T>G exon 12 c.1655T>C Classic infantile Adult 35 years F 45 years 1 Germany
PubMed c.-32-13T>G exon 12 c.1655T>C Classic infantile Childhood or Adult unknown F 29 years 1 Italy
PubMed c.-32-13T>G exon 12 c.1673G>C Unknown (disease-associated) Childhood 2 years M 17 years Mild left ventricular hypertrophy + - - - - + 1 Mexico
PubMed c.-32-13T>G exon 12 c.1694_1697del Unknown (disease-associated) Adult 35 years F 37 years - - 1 Italy
PubMed c.-32-13T>G exon 12 c.1694_1697del Unknown (disease-associated) Adult 28 years F 38 years - - - 1 Caucasian
PubMed c.-32-13T>G exon 12 c.1694_1697del Unknown (disease-associated) Adult unknown 38 years + 1 Italy
PubMed c.-32-13T>G exon 12 c.1724A>C Unknown (disease-associated) Childhood 3 years unknown 1 Swiss/ Ecuadorian
PubMed c.-32-13T>G exon 12 c.1754G>T Unknown (disease-associated) Adult 36 years M 51 years - + at night + + - 1 France
PubMed c.-32-13T>G intron 12 c.1755-1G>A Classic infantile asymptomatic asymptomatic F 20 years - - - - - - - - - 1 Caucasian
PubMed c.-32-13T>G exon 13 c.1776del Unknown (disease-associated) Childhood or Adult unknown M 40 years 1 Italy
PubMed c.-32-13T>G exon 13 c.1802C>G Unknown (disease-associated) Adult 33 years F - 1 Italy
PubMed c.-32-13T>G exon 13 c.1802C>T Classic infantile Adult 27 years M unknown - FVC in sitting/ supine position 33/26% - + 1 Germany
PubMed c.-32-13T>G exon 13 c.1802C>T Classic infantile Childhood unknown unknown 1 Germany

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