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| Mitochondrial disease v0.1118 | GPD1 | Zornitza Stark edited their review of gene: GPD1: Changed phenotypes: Hypertriglyceridemia, transient infantile MIM#614480 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.1118 | GPD1 | Zornitza Stark Marked gene: GPD1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.1118 | GPD1 | Zornitza Stark Gene: gpd1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.1118 | GPD1 |
Zornitza Stark changed review comment from: GPD1 is a cytosolic enzyme that works with the mitochondrial GPD2 enzyme to form the glycerol 3-phosphate shuttle, which transports reducing equivalents (NADH) into the mitochondria.; to: GPD1 is a cytosolic enzyme that works with the mitochondrial GPD2 enzyme to form the glycerol 3-phosphate shuttle, which transports reducing equivalents (NADH) into the mitochondria. Bi-allelic variants cause transient infantile hypertriglyceridemia which is characterized by onset of moderate to severe transient hypertriglyceridemia in infancy that normalizes with age. The hypertriglyceridemia is associated with hepatomegaly, moderately elevated transaminases, persistent fatty liver, and the development of hepatic fibrosis. More than 5 unrelated families reported. |
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| Mitochondrial disease v0.1118 | GPD1 | Zornitza Stark edited their review of gene: GPD1: Changed publications: 22226083, 24549054, 35365473, 34484308, 33447932 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.1118 | GPD1 | Zornitza Stark reviewed gene: GPD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.923 | GPD1 |
Bryony Thompson gene: GPD1 was added gene: GPD1 was added to Mitochondrial disease. Sources: Expert Review Green Mode of inheritance for gene: GPD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GPD1 were set to 29884839; 35988808; 24549054 Phenotypes for gene: GPD1 were set to Disorders of mitochondrial shuttles and carriers; transient infantile hypertriglyceridemia and hepatosteatosis MONDO:0013771 |
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