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| Likely inborn error of metabolism - targeted testing not possible v3.6 | UQCRFS1 | Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: UQCRFS1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v3.6 | UQCRFS1 | Achchuthan Shanmugasundram reviewed gene: UQCRFS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v3.5 | UQCRFS1 |
Achchuthan Shanmugasundram Source NHS GMS was added to UQCRFS1. Source Expert Review Green was added to UQCRFS1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Likely inborn error of metabolism - targeted testing not possible v2.298 | UQCRFS1 | Arina Puzriakova Classified gene: UQCRFS1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v2.298 | UQCRFS1 | Arina Puzriakova Gene: uqcrfs1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v2.297 | UQCRFS1 | Arina Puzriakova Phenotypes for gene: UQCRFS1 were changed from No OMIM phenotype to Mitochondrial complex III deficiency, nuclear type 10, OMIM:618775 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v2.296 | UQCRFS1 | Arina Puzriakova Publications for gene: UQCRFS1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v2.295 | UQCRFS1 | Arina Puzriakova Mode of inheritance for gene: UQCRFS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v2.265 | UQCRFS1 | Arina Puzriakova reviewed gene: UQCRFS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 31883641; Phenotypes: Mitochondrial complex III deficiency, nuclear type 10, OMIM: 618775; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v2.264 | UQCRFS1 | Arina Puzriakova Tag Q3_22_rating tag was added to gene: UQCRFS1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v0.4 | UQCRFS1 |
Ellen McDonagh gene: UQCRFS1 was added gene: UQCRFS1 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: UQCRFS1 was set to Unknown Phenotypes for gene: UQCRFS1 were set to No OMIM phenotype |
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