Pompe disease GAA variant database
Displaying 401 - 450 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 intron 1B c.-32-13T>G Childhood or Adult Childhood <12 years + 0
PubMed c.-32-13T>G intron 1B c.-32-13T>G Childhood or Adult Childhood or Adult >12 years (13) N.A. 13
PubMed c.-32-13T>G exon 17 c.2431del Unknown (disease-associated) Adult 30s M 48 years - - N.A. + (assistive device) - 1 Caucasian
PubMed c.-32-13T>G exon 2 c.258dup Unknown (disease-associated) Childhood 5 years M 30 y - + (BiPAP) + + (assistive device) + 1 Caucasian
PubMed c.-32-13T>G exon 5 c.925G>A Classic infantile Childhood /Adult (2) 10 years/20s years/32 years M/F/M 33 y/31 y/38 y -/-/- + (non-invasive ventilation)/BiPAP/BiPAP +/+/+ +/-/- +/+ walker/assistive device -/+/- 3 Caucasian
PubMed c.-32-13T>G intron 9 c.1437+2T>C Classic infantile Adult 20s years F 42 years - - N.A. + + (quad cane, wheelchair) - 1 Caucasian
PubMed c.-32-13T>G exon 19 c.2655_2656del Unknown (disease-associated) Adult (2) 30s years/58 years F/M 62 /65 years -/- -/ + (BiPAP) N.A./+ + (cane for long distance)/+ (walking stick occasionally) -/- 2 Caucasian
PubMed c.-32-13T>G exon 14 c.1951_1952delinsT Unknown (disease-associated) Adult (2) 30s years/35 years M/M 55 /55 years -/- + (BiPAP)/- +/ N.A. -/+ + (walker, cane)/+ (cane, wheelchair) +/- 2 Caucasian
PubMed c.-32-13T>G exon 2 c.525_526del Classic infantile Adult 42 years M 45 years + + (BiPAP) + + (assistive device) + 1 Caucasian
PubMed c.-32-13T>G exon 10 c.1445C>G Unknown (disease-associated) Adult 47 years M 58 years - + (BiPAP) + + (cane) - 1 Caucasian
PubMed c.-32-13T>G exon 7 c.1134C>G Unknown (disease-associated) Childhood 15 years M 23 y - + (BiPAP) + + (assistive device) - 1 Caucasian
PubMed c.-32-13T>G exon 2 c.307T>G Classic infantile Adult 56 years M 60 years - + (BiPAP) + + (cane) - 1 Caucasian
PubMed c.-32-13T>G exon 15 c.2104C>T Classic infantile Childhood 14 years F 24 y - - N.A. + (assistive device) - 1 Caucasian
PubMed c.-32-13T>G exon 6 c.1051del Unknown (disease-associated) Adult 40 years M 62 years + + (BiPAP) + + (assistive device) - 1 Caucasian
PubMed c.-32-13T>G Asian pseudodeficiency allele NBS NBS NBS 1 USA
PubMed c.-32-13T>G intron 15 c.2190-345A>G Unknown (disease-associated) Adult 62 years/ 66 years F/ F + 2 Netherlands
PubMed c.-32-13T>G intron 1B c.-32-13T>G Childhood or Adult NBS NBS 1 Hungary
PubMed c.-32-13T>G intron 1B c.-32-13T>G Childhood or Adult NBS NBS 1 USA
PubMed c.-32-13T>G exon 15 c.2135T>C Unknown (disease-associated) Childhood 0.7 male 2 + 1 Dutch
PubMed c.-32-13T>G exon 15 c.2135T>C Unknown (disease-associated) Childhood 0.8 female 0 1 Dutch
PubMed c.-32-13T>G exon 2 c.525del Classic infantile Childhood 8 male 9 1 Dutch
PubMed c.-32-13T>G exon 2 c.525del Classic infantile Childhood 11 female 12 1 Dutch
PubMed c.-32-13T>G exon 2 c.525del Classic infantile Childhood 5 male 11 1 Dutch
PubMed c.-32-13T>G exon 2 c.525del Classic infantile Childhood N.D. male 13 1 Dutch
PubMed c.-32-13T>G exon 2 c.525del Classic infantile Childhood 2 male 1 + 1 Dutch
PubMed c.-32-13T>G exon 2 c.525del Classic infantile Childhood 0.5 male 2 + 1 Dutch
PubMed c.-32-13T>G exon 2 c.172C>T Classic infantile Adult 23 male 15 1 Dutch
PubMed c.-32-13T>G exon 2 c.172C>T Classic infantile Childhood N.D. female 17 1 Dutch
PubMed c.-32-13T>G exon 2 c.379_380del Classic infantile Adult 18 female 20 1 Dutch
PubMed c.-32-13T>G exon 2 c.379_380del Classic infantile Adult 28 female 24 1 Dutch
PubMed c.-32-13T>G exon 2 c.525del Classic infantile Adult 19 male 19 1 Dutch
PubMed c.-32-13T>G exon 2 c.525del Classic infantile Unknown N.D. male 28 1 Dutch
PubMed c.-32-13T>G exon 13 c.1799G>A Classic infantile Adult 33 male 34 1 Dutch
PubMed c.-32-13T>G exon 13 c.1799G>A Classic infantile Adult 33 female 34 1 Dutch
PubMed c.-32-13T>G exon 2 c.525del Classic infantile Adult 23 male 26 1 Dutch
PubMed c.-32-13T>G exon 2 c.525del Classic infantile Adult 23 female 33 + + 1 Dutch
PubMed c.-32-13T>G exon 2 c.525del Classic infantile Adult 32 female 31 1 Dutch
PubMed c.-32-13T>G exon 2 c.525del Classic infantile Adult 27 female 44 1 Dutch
PubMed c.-32-13T>G exon 2 c.525del Classic infantile Adult 38 male 47 1 Dutch
PubMed c.-32-13T>G exon 2 c.525del Classic infantile Adult 47 female 51 1 Dutch
PubMed c.-32-13T>G exon 2 c.525del Classic infantile Adult 35 female 45 1 Dutch
PubMed c.-32-13T>G exon 2 c.525del Classic infantile Adult 32 female 25 1 Dutch
PubMed c.-32-13T>G exon 2 c.525del Classic infantile Adult 40 male 43 1 Dutch
PubMed c.-32-13T>G exon 2 c.525del Classic infantile Adult 36 female 37 + + 1 Dutch
PubMed c.-32-13T>G intron 6 c.1076-22T>G Childhood Adult 41 female 53 + 1 Dutch
PubMed c.-32-13T>G intron 6 c.1076-22T>G Childhood Adult 45 female 52 + 1 Dutch
PubMed c.-32-13T>G intron 17 c.2481+102_2646+31del Classic infantile Adult 30 Female 30 + + + 1 Dutch
PubMed c.-32-13T>G intron 17 c.2481+102_2646+31del Classic infantile Adult 41 male 38 + + 1 Dutch
PubMed c.-32-13T>G exon 2 c.525del Classic infantile Adult 33 male 34 + + 1 Dutch
PubMed c.-32-13T>G exon 2 c.525del Classic infantile Adult 43 female 26 1 Dutch

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