| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mitochondrial disease v0.130 | HTRA2 | Zornitza Stark Marked gene: HTRA2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.130 | HTRA2 | Zornitza Stark Gene: htra2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.130 | HTRA2 | Zornitza Stark Classified gene: HTRA2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.130 | HTRA2 | Zornitza Stark Gene: htra2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.129 | HTRA2 |
Zornitza Stark gene: HTRA2 was added gene: HTRA2 was added to Mitochondrial disease. Sources: Expert list Mode of inheritance for gene: HTRA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HTRA2 were set to 27208207; 27696117 Phenotypes for gene: HTRA2 were set to 3-methylglutaconic aciduria, type VIII, MIM# 617248 Review for gene: HTRA2 was set to GREEN gene: HTRA2 was marked as current diagnostic Added comment: Severe disorder typically presenting with hypotonia, abnormal movements, respiratory insufficiency with apnoea, and lack of developmental progress, often with seizures. Brain imaging is variable, but may show progressive cerebral atrophy. Increased serum lactate and 3-methylglutaconic aciduria. At least four unrelated families reported. Sources: Expert list |
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