Pompe disease GAA variant database
Displaying 601 - 650 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
c.199G>A unknown 0
c.221G>A unknown 0
PubMed c.236_246del exon 2 c.377G>A Classic infantile Classic infantile 2 months M died at 10 months + + - 1 Spanish-Italian
PubMed c.236_246del exon 14 c.1927G>A Classic infantile Classic infantile 1 month M 6 months + + 1 Brazil
PubMed c.236_246del exon 2 c.236_246del Classic infantile Classic infantile <2 months F 2.4 months + - 1 Caucasian
PubMed c.236_246del intron 1B c.-32-13T>G Childhood or Adult Childhood NBS M/F NBS +/+ 2 Marocco
PubMed c.236_246del exon 2 c.236_246del Classic infantile Classic infantile 1 month/4 months F /M 1 month/4 months + / + - / non invasive ventilation NA / + 2 Italy
PubMed c.236_246del exon 12 c.1655T>C Classic infantile Classic infantile 2 months M 3 months + - 1 Italy
PubMed c.236_246del exon 14 c.1927G>A Classic infantile Classic infantile 6 months F 11 months + Tracheostomy + + (no sitting position) 1 Italy
PubMed c.236_246del exon 2 c.236_246del Classic infantile Classic infantile 0 months F 7 months + 1 Marocco
PubMed c.236_246del exon 2 c.236_246del Classic infantile Classic infantile 0 months F 7 months + 1 Marocco
PubMed c.236_246del exon 2 c.236_246del Classic infantile Classic infantile 0 years 0,2 years + 1 Germany
PubMed c.236_246del exon 12 c.1655T>C Classic infantile Classic infantile 0 months M 3 months + 1 Italy
PubMed c.241C>T exon 16 c.2238G>C Childhood or Adult Childhood (2)/ Adult (1) 16 years/12 years/27 years M/ F/ F 24y/31y/29y +/-/+ +/-/+ unknown/unknown/+ 3 China
PubMed c.258dup intron 1B c.-32-13T>G Childhood or Adult Adult unknown M unknown 1 Italy
PubMed c.258dup intron 7 c.1195-8G>A Childhood or Adult Childhood or Adult unknown >10 years - 1 USA
PubMed c.258dup intron 1B c.-32-13T>G Childhood or Adult Adult M 33 years 1 USA
PubMed c.258dup intron 1B c.-32-13T>G Childhood or Adult Childhood 5 years M 30 y - + (BiPAP) + + (assistive device) + 1 Caucasian
PubMed c.258C>A second mutation is not reported Childhoor or Adult >12 years N.A. 0
PubMed c.265C>T second mutation is not reported Childhoor or Adult >12 years N.A. 0
PubMed c.266G>A second mutation is not reported Classic infantile <6 months F died at 36.8 months + - 1 Germany
PubMed c.266G>A exon 2 c.104T>C Classic infantile Classic infantile 0-3 months F 3 months + 1 Germany
c.271G>A not disease-associated 0
PubMed c.271G>A intron 1B c.-32-13T>G Childhood or Adult Adult 47 years/28 years F/M 50 years/36 years -/+ 2 Austria
PubMed c.271del intron 1B c.-32-13T>G Childhood or Adult Adult 37 years 49 years - - 1 Germany
PubMed c.271del intron 16 c.2331+4A>G Unknown (disease-associated) Adult 53 years M 60 years - + 1 Greece
PubMed c.271del intron 1B c.-32-13T>G Childhood or Adult Adult NA F NA + 1 Austria
PubMed c.295_314del second mutation is not reported Childhood or Adult >12 years N.A. 1
c.307T>C no combination/ no patient data reported 0
PubMed c.307T>G exon 2 c.525del Classic infantile Classic infantile <1 year <1.5 years + 1 Australian
PubMed c.307T>G intron 1B c.-32-13T>G Childhood or Adult Childhood 2 years F 3 years - + + - + 1 Caucasian
PubMed c.307T>G exon 10 c.1465G>A Classic infantile Classic infantile <3 months M unknown + 1 Italy
PubMed c.307T>G intron 1B c.-32-13T>G Childhood or Adult Adult 43 years/20 years/55 years 47y/43y/65y +/-/- -/+/- +/+/+ 3 Germany
PubMed c.307T>G intron 1B c.-32-13T>G Childhood or Adult Adult 43 years M 48 years + at night + - - 1 Germany
PubMed c.307T>G intron 1B c.-32-13T>G Childhood or Adult Childhood 7.5 years M 8 years - 1 Greece
PubMed c.307T>G intron 1B c.-32-13T>G Childhood or Adult Adult 25/46 years F/M 18/46 years + 1 Austria
PubMed c.307T>G exon 2 c.307T>G Classic infantile Classic infantile 0 years 6 months + 1 Germany
PubMed c.307T>G intron 1B c.-32-13T>G Childhood or Adult Childhood (2)/ Adult (4) 7/35/15/33/28/26 years F/M/M/M/M/F 24/39/27/45/32/26 years 6 Poland
PubMed c.307T>G exon 2 c.307T>G Classic infantile Classic infantile <12 months + 0
PubMed c.307T>G intron 1B c.-32-13T>G Childhood or Adult Adult 28 years F 37y - 1 Poland
PubMed c.307T>G intron 1B c.-32-13T>G Childhood or Adult Adult 56 years M 60 years - + (BiPAP) + + (cane) - 1 Caucasian
PubMed c.307T>G intron 1B c.-32-13T>G Childhood or Adult Childhood 12 8 1 Unknown
PubMed c.309C>A exon 2 c.309C>A Classic infantile Classic infantile <1 year <1.5 years + 1 Japan
PubMed c.317G>A exon 4 c.[752C>T; 761C>T] Unknown (disease-associated) NBS NBS 1 Japan
c.322T>G no combination/ no patient data reported 0
PubMed c.323G>A exon 14 c.2014C>T Childhood or Adult Adult 21 years M 23 years - 1 China
PubMed c.323G>A second mutation is not reported Classic infantile <12 months + 1 Northern India
PubMed c.323G>C intron 1B c.-32-13T>G Childhood or Adult Adult 40 years F 68 years + 1 Austria
c.324T>C not disease-associated 0
PubMed c.340_341insT exon 2 c.340_341insT Classic infantile Classic infantile <1 year <1.5 years + 1 Israeli/Arab

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

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