| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Mitochondrial disorders v6.4 | TAMM41 |
Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: TAMM41. Tag Q4_23_NHS_review was removed from gene: TAMM41. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v6.4 | TAMM41 | Sarah Leigh edited their review of gene: TAMM41: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v6.3 | TAMM41 | Sarah Leigh reviewed gene: TAMM41: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v6.2 | TAMM41 |
Achchuthan Shanmugasundram Source NHS GMS was added to TAMM41. Source Expert Review Green was added to TAMM41. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v4.115 | TAMM41 |
Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: TAMM41. Tag Q4_23_NHS_review tag was added to gene: TAMM41. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v4.115 | TAMM41 | Achchuthan Shanmugasundram Classified gene: TAMM41 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v4.115 | TAMM41 | Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Hannah Knight, there is sufficient evidence available (three unrelated cases and functional studies) for the promotion of this gene to green rating in the next GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v4.115 | TAMM41 | Achchuthan Shanmugasundram Gene: tamm41 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v4.114 | TAMM41 | Achchuthan Shanmugasundram Phenotypes for gene: TAMM41 were changed from Combined oxidative phosphorylation deficiency 56 to Combined oxidative phosphorylation deficiency 56, OMIM:620139 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v4.113 | TAMM41 | Achchuthan Shanmugasundram reviewed gene: TAMM41: Rating: GREEN; Mode of pathogenicity: None; Publications: 35321494; Phenotypes: Combined oxidative phosphorylation deficiency 56, OMIM:620139; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v4.113 | TAMM41 |
Hannah Knight gene: TAMM41 was added gene: TAMM41 was added to Mitochondrial disorders. Sources: Literature Mode of inheritance for gene: TAMM41 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TAMM41 were set to 35321494 Phenotypes for gene: TAMM41 were set to Combined oxidative phosphorylation deficiency 56 Review for gene: TAMM41 was set to GREEN Added comment: PMID: 35321494 (2022) report three unrelated individuals with mitochondrial disease and compound heterozygous variants in this gene + functional studies Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||