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| Fetal anomalies v3.78 | MRPS14 | Arina Puzriakova commented on gene: MRPS14 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v3.78 | MRPS14 |
Arina Puzriakova Tag to_be_confirmed_NHSE was removed from gene: MRPS14. Tag Q2_23_promote_green was removed from gene: MRPS14. Tag Q2_23_NHS_review was removed from gene: MRPS14. |
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| Fetal anomalies v3.28 | MRPS14 | Arina Puzriakova Publications for gene: MRPS14 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v3.27 | MRPS14 |
Arina Puzriakova Tag to_be_confirmed_NHSE tag was added to gene: MRPS14. Tag Q2_23_promote_green tag was added to gene: MRPS14. Tag Q2_23_NHS_review tag was added to gene: MRPS14. |
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| Fetal anomalies v3.8 | MRPS14 | Stephanie Allen commented on gene: MRPS14: 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 | MRPS14 | Stephanie Allen reviewed gene: MRPS14: Rating: GREEN; Mode of pathogenicity: ; Publications: 30358850; Phenotypes: ?Combined oxidative phosphorylation deficiency 38, OMIM:618378; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v3.7 | MRPS14 |
Arina Puzriakova gene: MRPS14 was added gene: MRPS14 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: MRPS14 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MRPS14 were set to ?Combined oxidative phosphorylation deficiency 38, OMIM:618378 |
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