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| Mitochondrial disease v0.439 | GDAP1 | Kristin Rigbye reviewed gene: GDAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.126 | GDAP1 | Zornitza Stark Marked gene: GDAP1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.126 | GDAP1 | Zornitza Stark Gene: gdap1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.126 | GDAP1 | Zornitza Stark Classified gene: GDAP1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.126 | GDAP1 | Zornitza Stark Gene: gdap1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.125 | GDAP1 |
Zornitza Stark gene: GDAP1 was added gene: GDAP1 was added to Mitochondrial disease. Sources: Expert list Mode of inheritance for gene: GDAP1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: GDAP1 were set to 16172208; 21753178; 21365284; 20232219; 11743580 Phenotypes for gene: GDAP1 were set to Charcot-Marie-Tooth disease, axonal, type 2K 607831, MIM# Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, MIM# 607706; Charcot-Marie-Tooth disease, recessive intermediate, A, MIM# 608340; Charcot-Marie-Tooth disease, type 4A, MIM# 214400 Review for gene: GDAP1 was set to GREEN Added comment: GDAP1 is an integral membrane protein of the outer mitochondrial membrane. Overexpression of Gdap1 induces fragmentation of mitochondria without inducing apoptosis, affecting overall mitochondrial activity, or interfering with mitochondrial fusion. Gdap1-specific knockdown by RNA interference resulted in a tubular mitochondrial morphology. Sources: Expert list |
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