Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
11 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.78 | LIPT2 |
Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: LIPT2. Tag Q1_25_ promote_green was removed from gene: LIPT2. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.78 | LIPT2 | Achchuthan Shanmugasundram edited their review of gene: LIPT2: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.77 | LIPT2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to LIPT2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.74 | LIPT2 |
Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: LIPT2. Tag Q1_25_ promote_green tag was added to gene: LIPT2. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.47 | LIPT2 | Achchuthan Shanmugasundram Phenotypes for gene: LIPT2 were changed from Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy; Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, OMIM:617668 to Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, OMIM:617668 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.16 | LIPT2 | Achchuthan Shanmugasundram commented on gene: LIPT2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.15 | LIPT2 | Sahar Mansour reviewed gene: LIPT2: Rating: GREEN; Mode of pathogenicity: ; Publications: 28757203, 39536593; Phenotypes: Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, MIM#617668; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.13 | LIPT2 |
Achchuthan Shanmugasundram Source NHS GMS was added to LIPT2. Added phenotypes Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, OMIM:617668 for gene: LIPT2 Publications for gene: LIPT2 were updated from to 28757203; 39536593 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | LIPT2 | Rebecca Foulger commented on gene: LIPT2: DDG2P rating in original PAGE list: Probable for Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3 | LIPT2 | Rebecca Foulger reviewed gene: LIPT2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | LIPT2 |
Rebecca Foulger gene: LIPT2 was added gene: LIPT2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: LIPT2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LIPT2 were set to Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||