Pompe disease GAA variant database
Displaying 451 - 500 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.-32-13T>G exon 2 c.379_380del Classic infantile Adult 52 female 61 1 Dutch
PubMed c.-32-13T>G exon 2 c.379_380del Classic infantile Adult 50 female 54 1 Dutch
PubMed c.-32-13T>G exon 2 c.379_380del Classic infantile Adult 44 female 51 + 1 Dutch
PubMed c.-32-13T>G exon 5 c.925G>A Classic infantile Adult 46 female 52 1 Dutch
PubMed c.-32-13T>G exon 5 c.925G>A Classic infantile Adult 21 female 42 + + 1 Dutch
PubMed c.-32-13T>G exon 5 c.925G>A Classic infantile Adult 31 male 39 + + 1 Dutch
PubMed c.-32-13T>G exon 2 c.525del Classic infantile Adult 35 male 43 1 Dutch
PubMed c.-32-13T>G exon 2 c.525del Classic infantile Adult 44 female 44 + + + 1 Dutch
PubMed c.-32-13T>G exon 2 c.525del Classic infantile Adult 30 male 48 + + 1 Dutch
PubMed c.-32-13T>G exon 2 c.525del Classic infantile Adult 61 male 67 + 1 Dutch
PubMed c.-32-13T>G exon 2 c.525del Classic infantile Adult 40 female 45 + + 1 Dutch
PubMed c.-32-13T>G exon 2 c.525del Classic infantile Adult 20 male 62 + 1 Dutch
PubMed c.-32-13T>G exon 2 c.525del Classic infantile Adult 21 male 64 + + + 1 Dutch
PubMed c.-32-13T>G exon 10 c.1548G>A Classic infantile Adult 44 male 63 + + 1 Dutch
PubMed c.-32-13T>G exon 10 c.1548G>A Classic infantile Adult 31 male 43 + + + 1 Dutch
PubMed c.-32-13T>G exon 10 c.1548G>A Classic infantile Adult 62 female 72 + 1 Dutch
PubMed c.-32-13T>G exon 5 c.925G>A Classic infantile Adult 49 female 54 + + 1 Dutch
PubMed c.-32-13T>G exon 5 c.925G>A Classic infantile Adult 62 female 63 + 1 Dutch
PubMed c.-32-13T>G exon 3 c.569G>A Childhood Childhood 15 male 25 1 Dutch
PubMed c.-32-13T>G exon 3 c.569G>A Childhood Adult 18 male 23 + 1 Dutch
PubMed c.-32-13T>G exon 5 c.896T>C Classic infantile Adult 47 56 1 Unknown
PubMed c.-32-13T>G exon 6 c.1051del Unknown (disease associated) Childhood 1 1.9657768651608 1 Unknown
PubMed c.-32-13T>G exon 6 c.1062C>G Classic infantile Childhood 5 2.0013689253936 1 Unknown
PubMed c.-32-13T>G exon 7 c.1115A>T Classic infantile Adult 29 36 1 Unknown
PubMed c.-32-13T>G exon 7 c.1115A>T Classic infantile Adult 34 34 1 Unknown
PubMed c.-32-13T>G exon 7 c.1115A>T Classic infantile Adult 53 60 1 Unknown
PubMed c.-32-13T>G exon 8 c.1221del Unknown (disease associated) Adult 26 35 1 Unknown
PubMed c.-32-13T>G exon 9 c.1396G>T Classic infantile Adult 28 21 1 Unknown
PubMed c.-32-13T>G exon 10 c.1441T>C Classic infantile Childhood 12 4 1 Unknown
PubMed c.-32-13T>G exon 10 c.1447G>A Unknown (disease associated) Adult 26 63 1 Unknown
PubMed c.-32-13T>G exon 10 c.1548G>A Classic infantile Childhood 7 9.4647501711157 1 Unknown
PubMed c.-32-13T>G exon 10 c.1548G>A Classic infantile Adult 49 50 1 Unknown
PubMed c.-32-13T>G exon 10 c.1548G>A Classic infantile Adult 29 39 1 Unknown
PubMed c.-32-13T>G exon 10 c.1548G>A Classic infantile Adult 22 24 1 Unknown
PubMed c.-32-13T>G exon 10 c.1548G>A Classic infantile Adult 30 38 1 Unknown
PubMed c.-32-13T>G exon 12 c.1655T>C Classic infantile Adult 34 36 1 Unknown
PubMed c.-32-13T>G exon 13 c.1799G>A Classic infantile Adult 22 28 1 Unknown
PubMed c.-32-13T>G exon 13 c.1799G>A Classic infantile Adult 50 57 1 Unknown
PubMed c.-32-13T>G exon 13 c.1799G>A Classic infantile Adult 30 30 1 Unknown
PubMed c.-32-13T>G exon 14 c.1933G>A Classic infantile Childhood 13 14.056125941136 1 Unknown
PubMed c.-32-13T>G exon 15 c.2104C>T Classic infantile Adult 50 65 1 Unknown
PubMed c.-32-13T>G exon 15 c.2135T>C Unknown (disease associated) Childhood 16 19 1 Unknown
PubMed c.-32-13T>G intron 16 c.2331+2T>A Classic infantile Childhood 2.5 3 1 Unknown
PubMed c.-32-13T>G intron 16 c.2331+2T>A Classic infantile Childhood 5 7.7973990417522 1 Unknown
PubMed c.-32-13T>G intron 17 c.2481+102_2646+31del Classic infantile Childhood 1.5 1.9794661190965 1 Unknown
PubMed c.-32-13T>G intron 17 c.2481+102_2646+31del Classic infantile Adult 46 66 1 Unknown
PubMed c.-32-13T>G intron 17 c.2481+102_2646+31del Classic infantile Adult 47 59 1 Unknown
PubMed c.-32-13T>G intron 17 c.2481+102_2646+31del Classic infantile Adult 38 38 1 Unknown
PubMed c.-32-13T>G intron 17 c.2481+102_2646+31del Classic infantile Adult 23 41 1 Unknown
PubMed c.-32-13T>G intron 17 c.2481+102_2646+31del Classic infantile Adult 27 38 1 Unknown

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