Pompe disease GAA variant database
Displaying 151 - 200 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 exon 13 c.1819_1836del Unknown (disease-associated) Adult 43 years F 54 years - + + + - 1 France
PubMed c.-32-13T>G exon 13 c.1826dup Classic infantile Adult 35 years F 45 years - - - - 1 USA
PubMed c.-32-13T>G exon 13 c.1827del Unknown (disease-associated) Adult >20 years unknown 1 Australian
PubMed c.-32-13T>G exon 13 c.1833_1847delinsACGGGGTAT Classic infantile Childhood <17 years F unknown 1 Italy
PubMed c.-32-13T>G exon 13 c.1836C>G Unknown (disease-associated) Adult adulthood F unknown 1 Italy
PubMed c.-32-13T>G exon 13 c.1843G>A Classic infantile Childhood 12 years 20 years + 1 Germany
PubMed c.-32-13T>G intron 13 c.1888+1G>A Unknown (disease-associated) Adult 33 years 40 years - vital capacity in sitting/supine position: 3.91L/ 3,74L - - 1 France
PubMed c.-32-13T>G intron 13 c.1888+1G>A Classic infantile or Childhood asymptomatic asymptomatic F 43 years 1 France
PubMed c.-32-13T>G exon 14 c.1912G>T Classic infantile Adult 30 years 50 years + 1 Germany
PubMed c.-32-13T>G exon 14 c.1912G>T Classic infantile Childhood 5 years unknown 1 Spain
PubMed c.-32-13T>G exon 14 c.1913G>T Classic infantile Childhood 15 years 36 years - 1 Brazil
PubMed c.-32-13T>G exon 14 c.1921C>G Unknown (disease-associated) asymptomatic asymptomatic 29 years - - - - - - - - - - 1 Brazil
PubMed c.-32-13T>G exon 14 c.1927G>A Classic infantile Adult 34 years F 52 years - + + + - 1 France
PubMed c.-32-13T>G exon 14 c.1927G>A Classic infantile Childhood <10 years F unknown 1 Italy
PubMed c.-32-13T>G exon 14 c.1927G>A Classic infantile Adult 48 years 68 years + 1 Germany
PubMed c.-32-13T>G exon 14 c.1927G>A Classic infantile Childhood 8 years/10 years/10 years M/ F/ M 23y/36y/33y -/-/- 3 Brazil
PubMed c.-32-13T>G exon 14 c.1927G>A Classic infantile Adult 25 years F 38 years - + at night - + + 1 Caucasian
PubMed c.-32-13T>G exon 14 c.1933G>T Unknown (disease-associated) Adult 30 years unknown 1 Spain
PubMed c.-32-13T>G exon 14 c.1941C>G Classic infantile Adult 36 years 40 years 1 Brazil
PubMed c.-32-13T>G exon 14 c.1942G>A Classic infantile Adult unknown 57 years 1 unknown
PubMed c.-32-13T>G exon 14 c.1942G>A Classic infantile Adult 31 years F 50 years - - - 1 Caucasian
PubMed c.-32-13T>G exon 14 c.1942G>A Classic infantile Adult 30 years 73 years - Vignos scale l.e. (2/3) 1 Germany
PubMed c.-32-13T>G exon 14 c.1943G>A Unknown (disease-associated) Adult unknown M 36 years FVC in sitting position 4.92L - - 1 Greece
PubMed c.-32-13T>G exon 14 c.1943G>A Unknown (disease-associated) asymptomatic asymptomatic M 21 years - - - - 1 Greece
PubMed c.-32-13T>G exon 14 c.2014C>T Childhood or Adult Childhood <13 years M unknown 1 Italy
PubMed c.-32-13T>G intron 14 c.2041-1G>A Unknown (disease-associated) Adult 20 years F 48 years +24h/d + + + 1 France
PubMed c.-32-13T>G exon 15 c.2055C>A Unknown (disease-associated) Adult 22 years M 22 years - - - 1 Caucasian
PubMed c.-32-13T>G exon 15 c.2066_2070dup Unknown (disease-associated) Adult 20 years M 36 years - - 1 Greece
PubMed c.-32-13T>G exon 15 c.2104C>T Classic infantile Childhood <6 years M unknown 1 Romanian
PubMed c.-32-13T>G exon 15 c.2104C>T Classic infantile asymptomatic asymptomatic F 25 years 1 France
PubMed c.-32-13T>G exon 15 c.2114T>C Unknown (disease-associated) Adult 42 years/34 years 46 years/36 years +/+ -/Neurological changes 2 Brazil
PubMed c.-32-13T>G exon 15 c.2135T>C Unknown (disease-associated) Adult 32 years M 63 years + + - - 1 unknown
PubMed c.-32-13T>G exon 15 c.2136_2137del Unknown (disease-associated) Adult 40 years M 40-44 years + + - - 1 Germany
PubMed c.-32-13T>G exon 15 c.2173C>T Childhood or Adult Adult unknown 44 years 1 Spain
PubMed c.-32-13T>G exon 16 c.2214G>A Unknown (disease-associated) Childhood (1)/ Adult (1) 2 years/38 years F/ F 2 years/63 years -/+ -/+ 2 Germany
PubMed c.-32-13T>G exon 16 c.2219_2220del Unknown (disease-associated) Childhood 6 years M 6 years 1 Italy
PubMed c.-32-13T>G exon 16 c.2237G>A Classic infantile Childhood (2)/ Adult (5) 1-38 years F (3)/ M (4) 12-60y (6)/died at 40y (1) + (2)/- (5) + (6) + (3)/- (4) + (7) 7 Italy
PubMed c.-32-13T>G exon 16 c.2237G>A Classic infantile Adult 40 years/30 years F/ F 60 years/61 years +/+ +/+ +/+ 2 Caucasian
PubMed c.-32-13T>G exon 16 c.2242dup Classic infantile Childhood or Adult unknown M unknown 1 Italy
PubMed c.-32-13T>G exon 16 c.2255_2257del Unknown (disease-associated) Childhood 3 years unknown 1 Spain
PubMed c.-32-13T>G exon 16 c.2269C>T Classic infantile Adult adulthood unknown 1 unknown
PubMed c.-32-13T>G exon 16 c.2281delinsAT Unknown (disease-associated) Childhood 13 years M 16 years + + + 1 Germany
PubMed c.-32-13T>G exon 16 c.2298_2301delinsAAAGTA Unknown (disease-associated) Adult 42 years M 55 years 1 Italy
PubMed c.-32-13T>G exon 16 c.2298_2301delinsAAAGTA Unknown (disease-associated) Adult 42 years F 58 years 1 Caucasian
PubMed c.-32-13T>G exon 16 c.2314T>C Unknown (disease-associated) Childhood or Adult unknown unknown 1 Caucasian
PubMed c.-32-13T>G exon 16 c.2322insggtgagtctgcaaacggggagt Unknown (disease-associated) Adult 50 years F 74 years - 1 Germany
PubMed c.-32-13T>G intron 16 c.2331+1G>A Unknown (disease-associated) Adult unknown M/ F 31 years/40 years -/- -/- FVC 83/102% -/- -/- 2 Italy
PubMed c.-32-13T>G intron 16 c.2331+2T>A Classic infantile Childhood 2.5 years/5 years M/ F 13 years/7.8 years -/- FVC in sitting/ supine position 66/54% / 108/104% -/- MRC 84%/MRC 100% 2 Caucasian
PubMed c.-32-13T>G intron 16 c.2331+2T>A Classic infantile Childhood or Adult unknown unknown 1 Caucasian
PubMed c.-32-13T>G exon 17 c.2431dup Classic infantile Adult 22 years 35 years + 1 Germany

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