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| Mitochondrial disease v0.1296 | SUCLG2 | Zornitza Stark Marked gene: SUCLG2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.1296 | SUCLG2 | Zornitza Stark Gene: suclg2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.1296 | SUCLG2 |
Zornitza Stark gene: SUCLG2 was added gene: SUCLG2 was added to Mitochondrial disease. Sources: Literature Mode of inheritance for gene: SUCLG2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SUCLG2 were set to 33484326 Phenotypes for gene: SUCLG2 were set to Mitochondrial disease, MONDO:0044970 Review for gene: SUCLG2 was set to RED Added comment: PMID 33484326 reports 3 individuals from 3 unrelated families with a heterozygous nonsense c.235G>T (p.Glu79*) variant in SUCLG2 presenting with MELAS syndrome (mitochondrial encephalopathy, lactic acidosis, stroke-like episodes). No functional or segregation data are provided. Note 3 hets in gnomAD v4, hence RED rating. Sources: Literature |
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