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| Intellectual disability v6.11 | TEFM | Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: TEFM. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.11 | TEFM | Sarah Leigh reviewed gene: TEFM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.10 | TEFM |
Achchuthan Shanmugasundram Source Expert Review Green was added to TEFM. Source NHS GMS was added to TEFM. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Intellectual disability v5.347 | TEFM | Achchuthan Shanmugasundram Classified gene: TEFM as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v5.347 | TEFM | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the promotion of this gene to green rating in the next GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v5.347 | TEFM | Achchuthan Shanmugasundram Gene: tefm has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v5.346 | TEFM | Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: TEFM. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v5.346 | TEFM | Achchuthan Shanmugasundram reviewed gene: TEFM: Rating: GREEN; Mode of pathogenicity: None; Publications: 36823193; Phenotypes: Combined oxidative phosphorylation deficiency 58, OMIM:620451; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v5.346 | TEFM | Achchuthan Shanmugasundram Entity copied from Mitochondrial disorders v4.116 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v5.346 | TEFM |
Achchuthan Shanmugasundram gene: TEFM was added gene: TEFM was added to Intellectual disability - microarray and sequencing. Sources: Literature Mode of inheritance for gene: TEFM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TEFM were set to 36823193 Phenotypes for gene: TEFM were set to Combined oxidative phosphorylation deficiency 58, OMIM:620451 |
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