Pompe disease GAA variant database
Displaying 2501 - 2550 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.2481+102_2646+31del intron 17 c.2481+102_2646+31del Classic infantile Childhood or Adult >12 years N.A. 1
PubMed c.2481+102_2646+31del intron 17 c.2481+102_2646+31del Classic infantile Classic infantile at birth F 2.4 m + - tachypnea severe hypotonia and a prominent head lag 1 Cacasian
PubMed c.2481+102_2646+31del intron 1B c.-32-13T>G Childhood or Adult Adult 30 Female 30 + + + 1 Dutch
PubMed c.2481+102_2646+31del intron 1B c.-32-13T>G Childhood or Adult Adult 41 male 38 + + 1 Dutch
PubMed c.2481+102_2646+31del intron 1B c.-32-13T>G Childhood or Adult Childhood 1.5 1.9794661190965 1 Unknown
PubMed c.2481+102_2646+31del intron 1B c.-32-13T>G Childhood or Adult Adult 46 66 1 Unknown
PubMed c.2481+102_2646+31del intron 1B c.-32-13T>G Childhood or Adult Adult 47 59 1 Unknown
PubMed c.2481+102_2646+31del intron 1B c.-32-13T>G Childhood or Adult Adult 38 38 1 Unknown
PubMed c.2481+102_2646+31del intron 1B c.-32-13T>G Childhood or Adult Adult 23 41 1 Unknown
PubMed c.2481+102_2646+31del intron 1B c.-32-13T>G Childhood or Adult Adult 27 38 1 Unknown
PubMed c.2481+102_2646+31del intron 1B c.-32-13T>G Childhood or Adult Adult 40 43 1 Unknown
PubMed c.2481+102_2646+31del intron 1B c.-32-13T>G Childhood or Adult Unknown 1 1 1 Unknown
PubMed c.2481+102_2646+31del intron 1B c.-32-13T>G Childhood or Adult Adult 36 41 1 Unknown
PubMed c.2481+102_2646+31del intron 1B c.-32-13T>G Childhood or Adult Adult 24 34 1 Unknown
PubMed c.2481+102_2646+31del intron 1B c.-32-13T>G Childhood or Adult Adult 26 36 1 Unknown
PubMed c.2481+102_2646+31del intron 1B c.-32-13T>G Childhood or Adult Adult 30 30 1 Unknown
PubMed c.2481+102_2646+31del intron 1B c.-32-13T>G Childhood or Adult Adult 27 43 1 Unknown
PubMed c.2481+102_2646+31del intron 1B c.-32-13T>G Childhood or Adult Adult 36 46 1 Unknown
PubMed c.2481+102_2646+31del intron 1B c.-32-13T>G Childhood or Adult Adult 49 59 1 Unknown
PubMed c.2481+102_2646+31del intron 1B c.-32-13T>G Childhood or Adult Adult 30 31 1 Unknown
PubMed c.2481+102_2646+31del intron 1B c.-32-13T>G Childhood or Adult Adult 35 44 1 Unknown
c.2482-132C>T not disease-associated 0
PubMed c.2482-5T>C exon 14 c.1935C>A/ Asian pseudodeficiency allele Classic infantile NBS NBS 1 Taiwan
PubMed c.2482-2A>G heteroyzgous carrier NBS NBS 1 Hungary
c.2495_2496del no combination/ no patient data reported 0
PubMed c.2495_2496del exon 18 c.2495_2496del Classic infantile Childhood 1 years F 1 year 1 Poland
PubMed c.2495_2496del exon 7 c.1129G>C Classic infantile Childhood 3 years/ 3 years F/ M 11 years/ 17 years 2 Poland
PubMed c.2495_2496del exon 18 c.2495_2496del Classic infantile Classic infantile <12 months + 0
PubMed c.2495_2496del intron 1B c.-32-13T>G Childhood or Adult Adult 22 years F 25y - 1 Poland
PubMed c.2501_2502del exon 2 c.377G>A Classic infantile Classic infantile at birth F 9 months + + 1 Brazil
PubMed c.2501_2502del exon 14 c.1905C>A Classic infantile Classic infantile at birth M 4 months + + 1 Brazil
PubMed c.2501_2502del exon 14 c.1933G>A Classic infantile Classic infantile <2.5 months M 3 months + - - 1 Hispanic
PubMed c.2501_2502del exon 18 c.2560C>T Classic infantile Classic infantile 2 months/2 months F/ F 6 months/5 months +/+ -/+ 2 Brazil
PubMed c.2501_2502del intron 2 c.546+2_546+5del Classic infantile Classic infantile <1 year 1 USA
PubMed c.2501_2502del intron 19 c.2799+4A>G Adult Childhood or Adult 1 USA
PubMed c.2512C>T exon 15 c.2105G>T Classic infantile Classic infantile at birth/at birth M/ M 10 months/ 3 weeks +/+ 2 African American
PubMed c.2512C>T exon 15 c.2105G>A Classic infantile Classic infantile <1 year 1 USA
PubMed c.2512C>T intron 1B c.-32-13T>G Childhood or Adult Adult 54 years 1 USA
PubMed c.2515C>T second mutation is not reported Classic infantile <12 months + 0
PubMed c.2528T>C second mutation is not reported unknown <2 years unknown 1 unknown
PubMed c.2530_2541del intron 1B c.-32-13T>G Childhood or Adult Adult unknown (3) 34y/34y/unknown FVC (%):86/82/unknown -/-/unknown -/-/unknown 3 Italy
PubMed c.2530_2541del intron 1B c.-32-13T>G Childhood or Adult Adult 50 years F 59 years + + 1 Italy
PubMed c.2530_2541del intron 1B c.-32-13T>G Childhood or Adult Adult 33 years 64 years - 1 Italy
PubMed c.2530_2541del exon 18 c.2530_2541del Unknown (disease-associated) Childhood <12 years + 0
PubMed c.2537C>A second mutation is not reported Classic infantile <12 months + 1 Northern India
PubMed c.2544del second mutation is not reported Childhoor or Adult >12 years N.A. 0
c.2553G>A not disease-associated 0
PubMed c.2560C>T intron 1B c.-32-13T>G Childhood or Adult Adult 41 years M 50 years - + + + - 1 France
PubMed c.2560C>T exon 5 c.875A>G Classic infantile Childhood 10 months M 2 years + 1 Dominican Republic/ Caucasian
PubMed c.2560C>T intron 6 c.1076-22T>G Childhood Childhood 20 months M 12 years slightly enlarged right ventricle - - - - 1 African american/ Caucasian

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