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| Fetal anomalies v3.111 | TK2 |
Sarah Leigh Tag Q2_23_promote_green was removed from gene: TK2. Tag Q2_23_NHS_review was removed from gene: TK2. |
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| Fetal anomalies v3.111 | TK2 | Sarah Leigh reviewed gene: TK2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v3.110 | TK2 |
Sarah Leigh Source Expert Review Green was added to TK2. Source NHS GMS was added to TK2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v3.60 | TK2 |
Arina Puzriakova Tag watchlist was removed from gene: TK2. Tag Q2_23_promote_green tag was added to gene: TK2. Tag Q2_23_NHS_review tag was added to gene: TK2. |
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| Fetal anomalies v3.8 | TK2 | Stephanie Allen commented on gene: TK2: This gene and phenotype were reviewed during a meeting on 2nd March 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, (North Thames GLH), and Stephanie Allen, Denise Williams, Anna de Burca and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v3.8 | TK2 | Stephanie Allen reviewed gene: TK2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 2 (myopathic type), OMIM:609560; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v3.7 | TK2 | Arina Puzriakova Added phenotypes Mitochondrial DNA depletion syndrome 2 (myopathic type), OMIM:609560 for gene: TK2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.961 | TK2 | Arina Puzriakova Phenotypes for gene: TK2 were changed from MITOCHONDRIAL DNA DEPLETION SYNDROME, MYOPATHIC FORM to Mitochondrial DNA depletion syndrome 2 (myopathic type), OMIM:609560 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.960 | TK2 | Arina Puzriakova Classified gene: TK2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.960 | TK2 | Arina Puzriakova Added comment: Comment on list classification: Updated rating from Red to Amber inline with this recent Amber review by Rhiannon Mellis (GOSH), awaiting further evidence supporting that this gene can cause a fetal phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.960 | TK2 | Arina Puzriakova Gene: tk2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.959 | TK2 | Arina Puzriakova Tag watchlist tag was added to gene: TK2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.900 | TK2 | Rhiannon Mellis reviewed gene: TK2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.311 | TK2 | Rebecca Foulger edited their review of gene: TK2: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.310 | TK2 |
Rebecca Foulger Source Expert Review Red was added to TK2. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Fetal anomalies v0.9 | TK2 | Rebecca Foulger commented on gene: TK2: DDG2P rating in original PAGE list: Confirmed for MITOCHONDRIAL DNA DEPLETION SYNDROME, MYOPATHIC FORM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3 | TK2 | Rebecca Foulger reviewed gene: TK2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | TK2 |
Rebecca Foulger gene: TK2 was added gene: TK2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TK2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TK2 were set to MITOCHONDRIAL DNA DEPLETION SYNDROME, MYOPATHIC FORM |
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