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Fetal anomalies v1.836 | RPL10 | Arina Puzriakova Tag for-review was removed from gene: RPL10. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | RPL10 | Arina Puzriakova commented on gene: RPL10: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.835 | RPL10 |
Arina Puzriakova Source Expert Review Green was added to RPL10. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Fetal anomalies v1.515 | RPL10 | Arina Puzriakova Phenotypes for gene: RPL10 were changed from Mental retardation, X-linked, syndromic, 35 to Mental retardation, X-linked, syndromic, 35, OMIM:300998; Intellectual disability, X-linked, syndromic, 35, MONDO:0030908 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.504 | RPL10 | Arina Puzriakova Classified gene: RPL10 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.504 | RPL10 | Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.504 | RPL10 | Arina Puzriakova Gene: rpl10 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.503 | RPL10 | Arina Puzriakova Tag for-review tag was added to gene: RPL10. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.200 | RPL10 |
Rhiannon Mellis gene: RPL10 was added gene: RPL10 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: RPL10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: RPL10 were set to Mental retardation, X-linked, syndromic, 35 Review for gene: RPL10 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): IUGR and IGF abnormalities; Severe microcephaly Sources: Expert list |