Link to 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 | intron 1B | c.-32-13T>G | Childhood or Adult | Childhood | <12 years | + | 0 | |||||||||||||
PubMed | c.-32-13T>G | intron 1B | c.-32-13T>G | Childhood or Adult | Childhood or Adult | >12 years (13) | N.A. | 13 | |||||||||||||
PubMed | c.-32-13T>G | exon 17 | c.2431del | Unknown (disease-associated) | Adult | 30s | M | 48 years | - | - | N.A. | + (assistive device) | - | 1 | Caucasian | ||||||
PubMed | c.-32-13T>G | exon 2 | c.258dup | Unknown (disease-associated) | Childhood | 5 years | M | 30 y | - | + (BiPAP) | + | + (assistive device) | + | 1 | Caucasian | ||||||
PubMed | c.-32-13T>G | exon 5 | c.925G>A | Classic infantile | Childhood /Adult (2) | 10 years/20s years/32 years | M/F/M | 33 y/31 y/38 y | -/-/- | + (non-invasive ventilation)/BiPAP/BiPAP | +/+/+ | +/-/- | +/+ walker/assistive device | -/+/- | 3 | Caucasian | |||||
PubMed | c.-32-13T>G | intron 9 | c.1437+2T>C | Classic infantile | Adult | 20s years | F | 42 years | - | - | N.A. | + | + (quad cane, wheelchair) | - | 1 | Caucasian | |||||
PubMed | c.-32-13T>G | exon 19 | c.2655_2656del | Unknown (disease-associated) | Adult (2) | 30s years/58 years | F/M | 62 /65 years | -/- | -/ + (BiPAP) | N.A./+ | + (cane for long distance)/+ (walking stick occasionally) | -/- | 2 | Caucasian | ||||||
PubMed | c.-32-13T>G | exon 14 | c.1951_1952delinsT | Unknown (disease-associated) | Adult (2) | 30s years/35 years | M/M | 55 /55 years | -/- | + (BiPAP)/- | +/ N.A. | -/+ | + (walker, cane)/+ (cane, wheelchair) | +/- | 2 | Caucasian | |||||
PubMed | c.-32-13T>G | exon 2 | c.525_526del | Classic infantile | Adult | 42 years | M | 45 years | + | + (BiPAP) | + | + (assistive device) | + | 1 | Caucasian | ||||||
PubMed | c.-32-13T>G | exon 10 | c.1445C>G | Unknown (disease-associated) | Adult | 47 years | M | 58 years | - | + (BiPAP) | + | + (cane) | - | 1 | Caucasian | ||||||
PubMed | c.-32-13T>G | exon 7 | c.1134C>G | Unknown (disease-associated) | Childhood | 15 years | M | 23 y | - | + (BiPAP) | + | + (assistive device) | - | 1 | Caucasian | ||||||
PubMed | c.-32-13T>G | exon 2 | c.307T>G | Classic infantile | Adult | 56 years | M | 60 years | - | + (BiPAP) | + | + (cane) | - | 1 | Caucasian | ||||||
PubMed | c.-32-13T>G | exon 15 | c.2104C>T | Classic infantile | Childhood | 14 years | F | 24 y | - | - | N.A. | + (assistive device) | - | 1 | Caucasian | ||||||
PubMed | c.-32-13T>G | exon 6 | c.1051del | Unknown (disease-associated) | Adult | 40 years | M | 62 years | + | + (BiPAP) | + | + (assistive device) | - | 1 | Caucasian | ||||||
PubMed | c.-32-13T>G | Asian pseudodeficiency allele | NBS | NBS | NBS | 1 | USA | ||||||||||||||
PubMed | c.-32-13T>G | intron 15 | c.2190-345A>G | Unknown (disease-associated) | Adult | 62 years/ 66 years | F/ F | + | 2 | Netherlands | |||||||||||
PubMed | c.-32-13T>G | intron 1B | c.-32-13T>G | Childhood or Adult | NBS | NBS | 1 | Hungary | |||||||||||||
PubMed | c.-32-13T>G | intron 1B | c.-32-13T>G | Childhood or Adult | NBS | NBS | 1 | USA | |||||||||||||
PubMed | c.-32-13T>G | exon 15 | c.2135T>C | Unknown (disease-associated) | Childhood | 0.7 | male | 2 | + | 1 | Dutch | ||||||||||
PubMed | c.-32-13T>G | exon 15 | c.2135T>C | Unknown (disease-associated) | Childhood | 0.8 | female | 0 | 1 | Dutch | |||||||||||
PubMed | c.-32-13T>G | exon 2 | c.525del | Classic infantile | Childhood | 8 | male | 9 | 1 | Dutch | |||||||||||
PubMed | c.-32-13T>G | exon 2 | c.525del | Classic infantile | Childhood | 11 | female | 12 | 1 | Dutch | |||||||||||
PubMed | c.-32-13T>G | exon 2 | c.525del | Classic infantile | Childhood | 5 | male | 11 | 1 | Dutch | |||||||||||
PubMed | c.-32-13T>G | exon 2 | c.525del | Classic infantile | Childhood | N.D. | male | 13 | 1 | Dutch | |||||||||||
PubMed | c.-32-13T>G | exon 2 | c.525del | Classic infantile | Childhood | 2 | male | 1 | + | 1 | Dutch | ||||||||||
PubMed | c.-32-13T>G | exon 2 | c.525del | Classic infantile | Childhood | 0.5 | male | 2 | + | 1 | Dutch | ||||||||||
PubMed | c.-32-13T>G | exon 2 | c.172C>T | Classic infantile | Adult | 23 | male | 15 | 1 | Dutch | |||||||||||
PubMed | c.-32-13T>G | exon 2 | c.172C>T | Classic infantile | Childhood | N.D. | female | 17 | 1 | Dutch | |||||||||||
PubMed | c.-32-13T>G | exon 2 | c.379_380del | Classic infantile | Adult | 18 | female | 20 | 1 | Dutch | |||||||||||
PubMed | c.-32-13T>G | exon 2 | c.379_380del | Classic infantile | Adult | 28 | female | 24 | 1 | Dutch | |||||||||||
PubMed | c.-32-13T>G | exon 2 | c.525del | Classic infantile | Adult | 19 | male | 19 | 1 | Dutch | |||||||||||
PubMed | c.-32-13T>G | exon 2 | c.525del | Classic infantile | Unknown | N.D. | male | 28 | 1 | Dutch | |||||||||||
PubMed | c.-32-13T>G | exon 13 | c.1799G>A | Classic infantile | Adult | 33 | male | 34 | 1 | Dutch | |||||||||||
PubMed | c.-32-13T>G | exon 13 | c.1799G>A | Classic infantile | Adult | 33 | female | 34 | 1 | Dutch | |||||||||||
PubMed | c.-32-13T>G | exon 2 | c.525del | Classic infantile | Adult | 23 | male | 26 | 1 | Dutch | |||||||||||
PubMed | c.-32-13T>G | exon 2 | c.525del | Classic infantile | Adult | 23 | female | 33 | + | + | 1 | Dutch | |||||||||
PubMed | c.-32-13T>G | exon 2 | c.525del | Classic infantile | Adult | 32 | female | 31 | 1 | Dutch | |||||||||||
PubMed | c.-32-13T>G | exon 2 | c.525del | Classic infantile | Adult | 27 | female | 44 | 1 | Dutch | |||||||||||
PubMed | c.-32-13T>G | exon 2 | c.525del | Classic infantile | Adult | 38 | male | 47 | 1 | Dutch | |||||||||||
PubMed | c.-32-13T>G | exon 2 | c.525del | Classic infantile | Adult | 47 | female | 51 | 1 | Dutch | |||||||||||
PubMed | c.-32-13T>G | exon 2 | c.525del | Classic infantile | Adult | 35 | female | 45 | 1 | Dutch | |||||||||||
PubMed | c.-32-13T>G | exon 2 | c.525del | Classic infantile | Adult | 32 | female | 25 | 1 | Dutch | |||||||||||
PubMed | c.-32-13T>G | exon 2 | c.525del | Classic infantile | Adult | 40 | male | 43 | 1 | Dutch | |||||||||||
PubMed | c.-32-13T>G | exon 2 | c.525del | Classic infantile | Adult | 36 | female | 37 | + | + | 1 | Dutch | |||||||||
PubMed | c.-32-13T>G | intron 6 | c.1076-22T>G | Childhood | Adult | 41 | female | 53 | + | 1 | Dutch | ||||||||||
PubMed | c.-32-13T>G | intron 6 | c.1076-22T>G | Childhood | Adult | 45 | female | 52 | + | 1 | Dutch | ||||||||||
PubMed | c.-32-13T>G | intron 17 | c.2481+102_2646+31del | Classic infantile | Adult | 30 | Female | 30 | + | + | + | 1 | Dutch | ||||||||
PubMed | c.-32-13T>G | intron 17 | c.2481+102_2646+31del | Classic infantile | Adult | 41 | male | 38 | + | + | 1 | Dutch | |||||||||
PubMed | c.-32-13T>G | exon 2 | c.525del | Classic infantile | Adult | 33 | male | 34 | + | + | 1 | Dutch | |||||||||
PubMed | c.-32-13T>G | exon 2 | c.525del | Classic infantile | Adult | 43 | female | 26 | 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. 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 |
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