Pompe disease GAA variant database
Displaying 2051 - 2100 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.1935C>A exon 14 c.1935C>A Classic infantile Childhood unknown unknown 1 Taiwan
PubMed c.1935C>A exon 16 c.2238G>C Childhood or Adult Childhood unknown (2) unknown (2) 2 Taiwan
PubMed c.1935C>A exon 14 c.1935C>A Classic infantile Classic infantile <7 months (11) died at 5-34m (8)/unknown (3) 11 Taiwan
PubMed c.1935C>A exon 17 c.2380del Classic infantile Classic infantile 2 months died at 31 months 1 Taiwan
PubMed c.1935C>A exon 19 c.2662G>T Classic infantile Classic infantile 2 months died at 12 months 1 Taiwan
PubMed c.1935C>A exon 15 c.2174G>C Classic infantile Classic infantile 5 months died at 15 months 1 Taiwan
PubMed c.1935C>A exon 14 c.1960T>C Classic infantile Classic infantile 5 months died at 12 months 1 Taiwan
PubMed c.1935C>A exon 14 c.2024_2026del Classic infantile Classic infantile <1 month died 1 Taiwan
PubMed c.1935C>A second mutation is not reported/ Asian pseudodeficiency allele Classic infantile unknown F unknown + 1 Thai
PubMed c.1935C>A exon 14 c.1935C>A/ Asian pseudodeficiency allele Classic infantile Classic infantile <1 month F NBS + 1 Taiwan
PubMed c.1935C>A exon 20 c.2843dup/ Asian pseudodeficiency allele Classic infantile Classic infantile 29 days M NBS + 1 Taiwan
PubMed c.1935C>A exon 16 c.2238G>C/ Asian pseudodeficiency allele Childhood or Adult Childhood unknown M NBS - 1 Taiwan
PubMed c.1935C>A exon 16 c.2238G>C Childhood or Adult Childhood (1)/ Adult (1) 6 years/23 years M/ F 14 years/32 years -/+ +/+ 2 China
PubMed c.1935C>A exon 14 c.2024_2026del Classic infantile unknown unknown unknown 1 China
PubMed c.1935C>A intron 14 c.2040+1G>T Classic infantile Classic infantile 3 weeks F 48 days + - + - 1 Taiwan
PubMed c.1935C>A exon 16 c.2303C>T Classic infantile Classic infantile 9 days M NBS + 1 Taiwan
PubMed c.1935C>A exon 14 c.1935C>A Classic infantile unknown unknown unknown 1 China
PubMed c.1935C>A exon 17 c.2380del Classic infantile unknown unknown unknown 1 China
PubMed c.1935C>A second mutation is not reported unknown unknown unknown 2 China
PubMed c.1935C>A exon 2 c.2T>C/ Asian pseudodeficiency allele Childhood Childhood >2 years 14 years + + 1 China
PubMed c.1935C>A exon 16 c.2274dup/ Asian pseudodeficiency allele Classic infantile Classic infantile 13 days M NBS + 1 Taiwan
PubMed c.1935C>A exon 20 c.2815_2816del Classic infantile Classic infantile <1 year 1 USA
PubMed c.1935C>A exon 15 c.2185del Classic infantile Classic infantile ~3.4 months F ~4.9 months + + 1 Southern China
PubMed c.1935C>A exon 14 c.1935C>A Classic infantile Classic infantile ~3.4 months M ~4.9 months + + 1 Southern China
PubMed c.1935C>A exon 20 c.2815_2816del Classic infantile Classic infantile ~3.4 months F/M ~4.9 months +/+ +/+ 2 Southern China
PubMed c.1935C>A exon 4 c.796C>T Classic infantile Classic infantile ~3.4 months M ~4.9 months + + 1 Northern China
PubMed c.1935C>A exon 11 c.1634C>T Childhood or Adult Childhood 11 M 21 + 1 Hong Kong
PubMed c.1935C>A exon 16 c.2238G>C Childhood or Adult Adult 26/21/32/34 years F/M/F/F 29/33/33/36 years +/+/+/+ -/-/-/+ 4 Hong Kong
PubMed c.1935C>A exon 14 c.1933G>C Classic infantile Classic infantile 1 months 1 month + + + 1 Thailand
PubMed c.1935C>A exon 14 c.1935C>A Classic infantile Classic infantile <12 months + ( 7) 0
PubMed c.1935C>A exon 14 c.1935C>A Classic infantile Childhood <12 years + 0
PubMed c.1935C>A exon 11 c.1594G>A Adult Adult 39 years M 43 years - + (BiPAP) + + (assistive device) - Aneurysm 1 Asian (Philippines)
PubMed c.1935C>A intron 17 c.2482-5T>C Unknown (found only in NBS) NBS NBS 1 Taiwan
PubMed c.1935C>A exon 8 c.1216G>A Childhood Childhood 2y/4y M/F 2y/4y +/+ -/+ +/+ 2 China
PubMed c.1941C>G exon 10 c.1456_1468del Classic infantile Classic infantile <5 months F died at <2 years + 1 French-Canadian mother/ Portuguese-Scandinavian father.
PubMed c.1941C>G exon 12 c.1655T>C Classic infantile Classic infantile at birth M 12 months + + 1 Brazil
PubMed c.1941C>G exon 13 c.1781G>C Childhood or adult Adult 27 years/31 years M/ M 33 years/40 years -/- -/+ 2 Brazil
PubMed c.1941C>G intron 17 c.2481+102_2646+31del Classic infantile Classic infantile <4 months F died + + 1 French-Canadian
PubMed c.1941C>G exon 14 c.1941C>G Classic infantile Classic infantile unknown unknown 1 Portuguese Azores island
PubMed c.1941C>G exon 14 c.1941C>G Classic infantile Classic infantile <1 year unknown 1 Portugal
PubMed c.1941C>G intron 1B c.-32-13T>G Childhood or Adult Adult 36 years 40 years 1 Brazil
PubMed c.1941C>G exon 14 c.1941C>G Classic infantile Classic infantile 3 months 5 months + 1 Thailand
PubMed c.1942G>A intron 1B c.-32-13T>G Childhood or Adult Adult unknown 57 years 1 unknown
PubMed c.1942G>A intron 1B c.-32-13T>G Childhood or Adult Adult 31 years F 50 years - - - 1 Caucasian
PubMed c.1942G>A intron 6 c.1076-22T>G Childhood Childhood 14 years M 17 years Wolf–Parkinson–White syndrome (at 17y) + + + + 1 Caucasian
PubMed c.1942G>A intron 1B c.-32-13T>G Childhood or Adult Adult 30 years 73 years - Vignos scale l.e. (2/3) 1 Germany
PubMed c.1942G>A intron 6 c.1076-22T>G Childhood Adult 25 years 47 years - + 24h/d + + - 1 Germany
PubMed c.1942G>A exon 14 c.1942G>A Classic infantile Classic infantile <1 year 1 USA
PubMed c.1942G>A exon 14 c.1942G>A Classic infantile Classic infantile <1 year 1 USA
PubMed c.1942G>A exon 18 c.2560C>T Classic infantile Classic infantile <1 years <1 years + + 9 French Guiana

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