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| Mitochondrial disease v1.6 | NDUFB7 | Zornitza Stark Phenotypes for gene: NDUFB7 were changed from Congenital lactic acidosis; hypertrophic cardiomyopathy to Mitochondrial complex I deficiency nuclear type 39 (MC1DN39), MIM#620135 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v1.5 | NDUFB7 | Zornitza Stark Publications for gene: NDUFB7 were set to 33502047; 27626371 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v1.4 | NDUFB7 | Zornitza Stark Classified gene: NDUFB7 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v1.4 | NDUFB7 | Zornitza Stark Gene: ndufb7 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v1.3 | NDUFB7 | Zornitza Stark edited their review of gene: NDUFB7: Added comment: PMID 40025060 reports second individual with compound heterozygous NM_004146.5:c.133_135del and NM_004146.5:c.311G>C variants presenting with lactic acidosis, premature birth, growth deficiency, ventral hernia, brain MRI pons abnormalities, developmental delay, and mild intellectual disability. Patient fibroblasts show Complex I assembly deficiency; zebrafish knockdown of ndufb7 reproduces brain ventricle and neuronal defects, elevated lactate. Two families only but strong biological candidate with good functional data from different systems.; Changed rating: GREEN; Changed publications: 40025060 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.844 | NDUFB7 | Zornitza Stark reviewed gene: NDUFB7: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex I deficiency nuclear type 39 (MC1DN39), MIM#620135; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.594 | NDUFB7 | Bryony Thompson Marked gene: NDUFB7 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.594 | NDUFB7 | Bryony Thompson Gene: ndufb7 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.594 | NDUFB7 | Bryony Thompson Classified gene: NDUFB7 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.594 | NDUFB7 | Bryony Thompson Gene: ndufb7 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.593 | NDUFB7 |
Bryony Thompson gene: NDUFB7 was added gene: NDUFB7 was added to Mitochondrial disease. Sources: Literature Mode of inheritance for gene: NDUFB7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFB7 were set to 33502047; 27626371 Phenotypes for gene: NDUFB7 were set to Congenital lactic acidosis; hypertrophic cardiomyopathy Review for gene: NDUFB7 was set to AMBER Added comment: Single patient with a homozygous variant impacting RNA splicing (c.113-10C>G) with intrauterine growth restriction and anaemia, which displayed postpartum hypertrophic cardiomyopathy, lactic acidosis, encephalopathy, and a severe complex I defect with fatal outcome. Also, a supporting knockout cell line model demonstrating impaired complex I assembly. Sources: Literature |
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