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| Fetal anomalies v3.111 | DARS2 |
Sarah Leigh Tag Q2_23_promote_green was removed from gene: DARS2. Tag Q2_23_NHS_review was removed from gene: DARS2. |
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| Fetal anomalies v3.111 | DARS2 | Sarah Leigh reviewed gene: DARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v3.110 | DARS2 |
Sarah Leigh Source Expert Review Green was added to DARS2. Source NHS GMS was added to DARS2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v3.18 | DARS2 | Arina Puzriakova Phenotypes for gene: DARS2 were changed from LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION; Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, OMIM:611105 to Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, OMIM:611105 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v3.17 | DARS2 | Arina Puzriakova Publications for gene: DARS2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v3.16 | DARS2 |
Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: DARS2. Tag Q2_23_NHS_review tag was added to gene: DARS2. |
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| Fetal anomalies v3.8 | DARS2 | Stephanie Allen commented on gene: DARS2: This gene and phenotype were reviewed during a meeting on 23rd Feb 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Natalie Chandler (North Thames GLH), and Stephanie Allen, Esther Kinning 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 | DARS2 | Stephanie Allen reviewed gene: DARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 33977142; Phenotypes: Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, OMIM:611105; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v3.7 | DARS2 |
Arina Puzriakova Source Expert Review Amber was added to DARS2. Added phenotypes Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, OMIM:611105 for gene: DARS2 Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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| Fetal anomalies v0.223 | DARS2 |
Rebecca Foulger Source Expert Review Red was added to DARS2. Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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| Fetal anomalies v0.222 | DARS2 | Rebecca Foulger edited their review of gene: DARS2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Originally rated Amber based on DDG2P Disease confidence of 'both DD and IF' for at least one disorder. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Slowly progressive and manifests later. Action taken: Demoted DARS2 gene rating from Amber to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.110 | DARS2 | Rebecca Foulger commented on gene: DARS2: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.109 | DARS2 |
Rebecca Foulger Source Expert Review Amber was added to DARS2. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| Fetal anomalies v0.7 | DARS2 | Rebecca Foulger reviewed gene: DARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | DARS2 |
Rebecca Foulger gene: DARS2 was added gene: DARS2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: DARS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DARS2 were set to LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION |
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