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| Optic Atrophy v1.7 | NDUFS3 | Zornitza Stark Marked gene: NDUFS3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic Atrophy v1.7 | NDUFS3 | Zornitza Stark Gene: ndufs3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic Atrophy v1.7 | NDUFS3 | Zornitza Stark Classified gene: NDUFS3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic Atrophy v1.7 | NDUFS3 | Zornitza Stark Gene: ndufs3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic Atrophy v1.5 | NDUFS3 |
Krithika Murali gene: NDUFS3 was added gene: NDUFS3 was added to Optic Atrophy. Sources: Literature Mode of inheritance for gene: NDUFS3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFS3 were set to 22499348; 30140060; 14729820; 33097395 Phenotypes for gene: NDUFS3 were set to Mitochondrial complex I deficiency, nuclear type 8 - MIM#618230 Review for gene: NDUFS3 was set to AMBER Added comment: 4 unrelated families reported with supportive functional evidence. Leigh-syndrome phenotype reported with features suggestive of optic atrophy described in one patient. -- PMID 22499348 - report one individual with homozygous variants and developmental delay, muscular hypotonia, lactic acidosis, rapid progression of disease. PMID 30140060 - report one individual with compound het variants and Leigh-syndrome phenotype. MRI-B showed a high T2 signal intensity in the white matter of hemispheres, basal ganglia and brain stem with progressive changes. Patient deceased age 2. PMID 14729820 - report one individual with compound het variant and affected foetus. The proband presented at the age of 9 with persistent stiff neck. MRI-B age 10 detected high T2 signal intensity in the putamen, white matter and brainstem. Also had features of optic nerve atrophy and later developed acute pancreatitis, severe respiratory insufficiency and died age 13 after rapid multisystem deterioration. PMID 33097395 - report one adult patient with compound-het variants and Leigh Syndrome features Sources: Literature |
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