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| Fetal anomalies v3.111 | SLC25A46 |
Sarah Leigh Tag Q2_23_promote_green was removed from gene: SLC25A46. Tag Q2_23_NHS_review was removed from gene: SLC25A46. |
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| Fetal anomalies v3.111 | SLC25A46 | Sarah Leigh reviewed gene: SLC25A46: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v3.110 | SLC25A46 |
Sarah Leigh Source Expert Review Green was added to SLC25A46. Source NHS GMS was added to SLC25A46. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v3.59 | SLC25A46 | Arina Puzriakova Publications for gene: SLC25A46 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v3.58 | SLC25A46 |
Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: SLC25A46. Tag Q2_23_NHS_review tag was added to gene: SLC25A46. |
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| Fetal anomalies v3.8 | SLC25A46 | Stephanie Allen commented on gene: SLC25A46: 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 | SLC25A46 | Stephanie Allen reviewed gene: SLC25A46: Rating: GREEN; Mode of pathogenicity: ; Publications: 28653766, 35012485, 27543974, 26951855; Phenotypes: Pontocerebellar hypoplasia, type 1E, OMIM:619303; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v3.7 | SLC25A46 |
Arina Puzriakova gene: SLC25A46 was added gene: SLC25A46 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: SLC25A46 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC25A46 were set to Pontocerebellar hypoplasia, type 1E, OMIM:619303 |
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| Fetal anomalies v0.9 | SLC25A4 | Rebecca Foulger commented on gene: SLC25A4: DDG2P rating in original PAGE list: Probable for Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3 | SLC25A4 | Rebecca Foulger reviewed gene: SLC25A4: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | SLC25A4 |
Rebecca Foulger gene: SLC25A4 was added gene: SLC25A4 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: SLC25A4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SLC25A4 were set to Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number |
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