Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
11 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v6.14 | MT-TT | Arina Puzriakova Tag gene-checked tag was added to gene: MT-TT. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v6.10 | MT-TT | Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: MT-TT. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v6.10 | MT-TT | Achchuthan Shanmugasundram reviewed gene: MT-TT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MITOCHONDRIAL | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v6.9 | MT-TT |
Achchuthan Shanmugasundram Source NHS GMS was added to MT-TT. Source Expert Review Green was added to MT-TT. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v5.8 | MT-TT | Sarah Leigh Tag Q2_24_promote_green tag was added to gene: MT-TT. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v5.8 | MT-TT | Sarah Leigh Phenotypes for gene: MT-TT were changed from mitochondrial disease, MONDO:0044970; Leber optic atrophy, OMIM:535000; myoclonic epilepsy associated with ragged-red fibers, OMIM:545000; fatal infantile respiratory enzyme deficiency; Inherited Diabetes Mellitus; adult onset mild mypathy to mitochondrial disease, MONDO:0044970; Leber optic atrophy, OMIM:535000; myoclonic epilepsy associated with ragged-red fibers, OMIM:545000; fatal infantile respiratory enzyme deficiency; Inherited Diabetes Mellitus; adult onset mild myopathy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v5.7 | MT-TT | Sarah Leigh reviewed gene: MT-TT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MITOCHONDRIAL | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v5.7 | MT-TT | Sarah Leigh Phenotypes for gene: MT-TT were changed from mitochondrial disease; Leber optic atrophy, OMIM:535000; myoclonic epilepsy associated with ragged-red fibers, OMIM:545000; fatal infantile respiratory enzyme deficiency; Inherited Diabetes Mellitus; adult onset mild mypathy to mitochondrial disease, MONDO:0044970; Leber optic atrophy, OMIM:535000; myoclonic epilepsy associated with ragged-red fibers, OMIM:545000; fatal infantile respiratory enzyme deficiency; Inherited Diabetes Mellitus; adult onset mild mypathy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v5.6 | MT-TT | Sarah Leigh Phenotypes for gene: MT-TT were changed from to mitochondrial disease; Leber optic atrophy, OMIM:535000; myoclonic epilepsy associated with ragged-red fibers, OMIM:545000; fatal infantile respiratory enzyme deficiency; Inherited Diabetes Mellitus; adult onset mild mypathy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v5.5 | MT-TT | Sarah Leigh Publications for gene: MT-TT were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v0.4 | MT-TT |
Ellen McDonagh gene: MT-TT was added gene: MT-TT was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene gene: MT-TT was set to MITOCHONDRIAL |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||