GPD1L Chromosome 3
Glycerol-3-phosphate dehydrogenase 1 like
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What This Gene Does
The protein encoded by this gene catalyzes the conversion of sn-glycerol 3-phosphate to glycerone phosphate. The encoded protein is found in the cytoplasm, associated with the plasma membrane, where it binds the sodium channel, voltage-gated, type V, alpha subunit (SCN5A). Defects in this gene are a cause of Brugada syndrome type 2 (BRS2) as well as sudden infant death syndrome (SIDS). [provided by RefSeq, Jul 2010]
Associated Conditions (11)
Sudden cardiac death
Brugada syndrome
Cardiovascular phenotype
Brugada syndrome 2
Death in infancy
Brugada syndrome (shorter-than-normal QT interval)
Long QT syndrome
GPD1L-related disorder
SUDDEN INFANT DEATH SYNDROME
Primary familial hypertrophic cardiomyopathy
Hypertrophic cardiomyopathy
Key Variants
RS112122950
Conflicting classifications of pathogenicity
Sudden cardiac death, Brugada syndrome, Cardiovascular phenotype
Health Risk
RS139369157
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Brugada syndrome, Cardiovascular phenotype
Health Risk
RS139494055
Conflicting classifications of pathogenicity
Brugada syndrome, Cardiovascular phenotype, Brugada syndrome 2
Health Risk
RS143486835
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Brugada syndrome, Cardiovascular phenotype
Health Risk
RS1559583375
Conflicting classifications of pathogenicity
Brugada syndrome, Cardiovascular phenotype, Brugada syndrome
Health Risk
RS182826539
Conflicting classifications of pathogenicity
Brugada syndrome, Cardiovascular phenotype, Brugada syndrome
Health Risk
RS201152084
Conflicting classifications of pathogenicity
Brugada syndrome, Cardiovascular phenotype, Brugada syndrome
Health Risk
RS202047839
Conflicting classifications of pathogenicity
Brugada syndrome, Cardiovascular phenotype, Brugada syndrome
Health Risk
RS2044880
Conflicting classifications of pathogenicity
Brugada syndrome, Brugada syndrome 2, Brugada syndrome
Health Risk
RS2125485191
Conflicting classifications of pathogenicity
Brugada syndrome, Cardiovascular phenotype, Brugada syndrome
Health Risk
RS72552291
Conflicting classifications of pathogenicity
Brugada syndrome 2, Death in infancy, Cardiovascular phenotype
Health Risk
RS72552292
Conflicting classifications of pathogenicity
Brugada syndrome 2, Cardiovascular phenotype, Brugada syndrome
Health Risk
All Variants (23)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS112122950 | Health Risk | Conflicting classifications of pathogenicity | Sudden cardiac death, Brugada syndrome, Cardiovascular phenotype |
| RS139369157 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Brugada syndrome, Cardiovascular phenotype |
| RS139494055 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome, Cardiovascular phenotype, Brugada syndrome 2 |
| RS143486835 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Brugada syndrome, Cardiovascular phenotype |
| RS1559583375 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome, Cardiovascular phenotype, Brugada syndrome |
| RS182826539 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome, Cardiovascular phenotype, Brugada syndrome |
| RS201152084 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome, Cardiovascular phenotype, Brugada syndrome |
| RS202047839 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome, Cardiovascular phenotype, Brugada syndrome |
| RS2044880 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome, Brugada syndrome 2, Brugada syndrome |
| RS2125485191 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome, Cardiovascular phenotype, Brugada syndrome |
| RS72552291 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome 2, Death in infancy, Cardiovascular phenotype |
| RS72552292 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome 2, Cardiovascular phenotype, Brugada syndrome |
| RS72552293 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome 2, SUDDEN INFANT DEATH SYNDROME, Long QT syndrome |
| RS72552294 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome 2, Brugada syndrome, Cardiovascular phenotype |
| RS751812984 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome, Cardiovascular phenotype, Brugada syndrome |
| RS754888410 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS757614405 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome, Cardiovascular phenotype, Brugada syndrome |
| RS761698828 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome, Cardiovascular phenotype, Brugada syndrome 2 |
| RS762018216 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome, Cardiovascular phenotype, Brugada syndrome |
| RS764691105 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome, Cardiovascular phenotype, Brugada syndrome 2 |
| RS765497074 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome, Cardiovascular phenotype, Brugada syndrome |
| RS779017611 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome, Cardiovascular phenotype, Brugada syndrome |
| RS780760018 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Brugada syndrome, Cardiovascular phenotype |