Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
13 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v5.28 | MT-ND2 | Ida Ertmanska Tag technical-limitations tag was added to gene: MT-ND2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v5.28 | MT-ND2 |
Ida Ertmanska Tag Q2_25_ promote_green was removed from gene: MT-ND2. Tag Q2_25_expert_review was removed from gene: MT-ND2. Tag Q2_25_ NHS_review was removed from gene: MT-ND2. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v5.28 | MT-ND2 | Ida Ertmanska changed review comment from: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains Amber. The GMS reviewers commented as follows: More appropriate for specialist mitochondrial lab to test for this - 1) Alternative panel test available for this gene (R42.2 - Leber hereditary optic neuropathy). 2). May not be technically feasible for all laboratories to include this gene on the panel.; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains Amber. The GMS reviewers commented as follows: More appropriate for specialist mitochondrial lab to test for this - 1) Alternative panel test available for this gene (R42.2 - Leber hereditary optic neuropathy); 2). May not be technically feasible for all laboratories to include this gene on the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v5.28 | MT-ND2 | Ida Ertmanska commented on gene: MT-ND2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v5.10 | MT-ND2 | Achchuthan Shanmugasundram Publications for gene: MT-ND2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v5.9 | MT-ND2 | Achchuthan Shanmugasundram Phenotypes for gene: MT-ND2 were changed from to Leber hereditary optic neuropathy, MONDO:0010788 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v5.7 | MT-ND2 | Achchuthan Shanmugasundram Classified gene: MT-ND2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v5.7 | MT-ND2 | Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene has been reviewed green by Katherine Schon on this panel. Expert review from the Genomic Medicine Service is being sought on the inclusion of this gene with green rating on this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v5.7 | MT-ND2 | Achchuthan Shanmugasundram Gene: mt-nd2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v5.6 | MT-ND2 |
Achchuthan Shanmugasundram Tag Q2_25_ promote_green tag was added to gene: MT-ND2. Tag Q2_25_expert_review tag was added to gene: MT-ND2. Tag Q2_25_ NHS_review tag was added to gene: MT-ND2. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v5.6 | MT-ND2 | Achchuthan Shanmugasundram reviewed gene: MT-ND2: Rating: GREEN; Mode of pathogenicity: None; Publications: 8680405, 11479733, 21145289, 20454697; Phenotypes: Leber hereditary optic neuropathy, MONDO:0010788; Mode of inheritance: MITOCHONDRIAL | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v5.3 | MT-ND2 | Katherine Schon reviewed gene: MT-ND2: Rating: GREEN; Mode of pathogenicity: ; Publications: 11479733, 21145289; Phenotypes: ; Mode of inheritance: MITOCHONDRIAL | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v5.2 | MT-ND2 |
Achchuthan Shanmugasundram gene: MT-ND2 was added gene: MT-ND2 was added to Optic neuropathy. Sources: Literature Mode of inheritance for gene gene: MT-ND2 was set to MITOCHONDRIAL |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||