Pompe disease GAA variant database
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Variants [282]

Link to Pubmed Location DNA nomenclature RNA nomenclature Protein nomenclature Type of variant DNA Type of variant RNA Type of variant Protein MAF RS number Biochemical evidence of pathogenicity Splicing and translation prediction Biochemical evidence of CRIM status Prediction of CRIM status Number of patients Id Predicted severity Phenotype with null allele CRIM status Missense prediction (Mutation Taster) Missense prediction (SIFT) Missense prediction (Align GVGD)
PubMed intron 6 c.1076-22T>G r.(spl?) p.? Substitution Substitution/ Splicing (intron variant) Insertion MAF is less than 1% rs762260678 new cryptic splice acceptor unknown 282 Potentially mild Childhood Unknown
Displaying 1 - 9 of 9
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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.1076-22T>G exon 18 c.2560C>T Classic infantile Childhood 20 months M 12 years slightly enlarged right ventricle - - - - 1 African american/ Caucasian
PubMed c.1076-22T>G intron 6 c.1076-22T>G Childhood Adult 40 years/38 years 58 years/53 years +/+ 2 Germany
PubMed c.1076-22T>G exon 13 c.1841C>A Unknown (disease-associated) Childhood or Adult unknown >10 years - 1 USA
PubMed c.1076-22T>G exon 14 c.1942G>A Classic infantile Childhood 14 years M 17 years Wolf-Parkinson-White syndrome (at 17y) + + + + 1 Caucasian
PubMed c.1076-22T>G exon 14 c.1942G>A Classic infantile Adult 25 years 47 years - + 24h/d + + - 1 Germany
PubMed c.1076-22T>G exon 2 c.525del Classic infantile Childhood 3,5 years M 5 years 1 Austria
PubMed c.1076-22T>G intron 6 c.1076-22T>G Childhood Childhood or Adult >12 years N.A. 1
PubMed c.1076-22T>G intron 1B c.-32-13T>G Childhood or Adult Adult 41 female 53 + 1 Dutch
PubMed c.1076-22T>G intron 1B c.-32-13T>G Childhood or Adult Adult 45 female 52 + 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

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