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| Mitochondrial disease v0.599 | NDUFA8 | Zornitza Stark Phenotypes for gene: NDUFA8 were changed from NDUFA8-related mitochondrial disease; Developmental delay; microcehaly; seizures to Mitochondrial complex I deficiency, nuclear type 37, MIM# 619272; Developmental delay; microcehaly; seizures | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.598 | NDUFA8 | Zornitza Stark Publications for gene: NDUFA8 were set to 32385911 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.597 | NDUFA8 | Zornitza Stark Classified gene: NDUFA8 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.597 | NDUFA8 | Zornitza Stark Gene: ndufa8 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.596 | NDUFA8 | Zornitza Stark edited their review of gene: NDUFA8: Added comment: Second family reported with pair of affected siblings and homozygous missense variant, some functional data.; Changed rating: AMBER; Changed publications: 32385911, 33153867; Changed phenotypes: Mitochondrial complex I deficiency, nuclear type 37, MIM# 619272, Developmental delay, microcehaly, seizures, lactic acidosis | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.458 | NDUFA8 | Zornitza Stark Marked gene: NDUFA8 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.458 | NDUFA8 | Zornitza Stark Gene: ndufa8 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.458 | NDUFA8 |
Zornitza Stark gene: NDUFA8 was added gene: NDUFA8 was added to Mitochondrial disease. Sources: Literature Mode of inheritance for gene: NDUFA8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFA8 were set to 32385911 Phenotypes for gene: NDUFA8 were set to NDUFA8-related mitochondrial disease; Developmental delay; microcehaly; seizures Review for gene: NDUFA8 was set to RED Added comment: Single individual reported with homozygous variant, fibroblasts showed apparent biochemical defects in mitochondrial complex I. Sources: Literature |
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