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| Cardiomyopathy_Paediatric v1.343 | NDUFB8 | Zornitza Stark Marked gene: NDUFB8 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.343 | NDUFB8 | Zornitza Stark Gene: ndufb8 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.343 | NDUFB8 | Zornitza Stark Phenotypes for gene: NDUFB8 were changed from Mitochondrial complex I deficiency, nuclear type 32, 618252 to Mitochondrial complex I deficiency, nuclear type 32, MIM# 618252 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.342 | NDUFB8 |
Zornitza Stark changed review comment from: Cardiomyopathy reported in one of the two original families.; to: Cardiomyopathy reported in one of the two original families. The gene-disease relationship has been rated as MODERATE by ClinGen, with only 3 families reported -- the third family in PMID 30770271 had predominantly neurological involvement. |
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| Cardiomyopathy_Paediatric v1.342 | NDUFB8 | Zornitza Stark reviewed gene: NDUFB8: Rating: AMBER; Mode of pathogenicity: None; Publications: 29429571; Phenotypes: Mitochondrial complex I deficiency, nuclear type 32, MIM# 618252; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.0 | NDUFB8 | Gene migrated from ENSG00000166136 to ENSG00000166136 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.0 | NDUFB8 |
Zornitza Stark gene: NDUFB8 was added gene: NDUFB8 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Amber,MetBioNet Mode of inheritance for gene: NDUFB8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFB8 were set to 29429571; 27290639 Phenotypes for gene: NDUFB8 were set to Mitochondrial complex I deficiency, nuclear type 32, 618252 |
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