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| Fetal anomalies v0.225 | G6PC3 | Rebecca Foulger edited their review of gene: G6PC3: 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. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: G6PC3 was originally added to the Fetal anomalies panel from the PAGE Additional gene list. G6PC3 is not yet associated with a disorder in Gene2Phenotype but is associated in OMIM with Dursun syndrome and Neutropenia, severe congenital 4, autosomal recessive (both MIM:612541). Since structural features were noted in some patients, it was decided that on balance G6PC3 should be included on the panel.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | G6PC3 | Rebecca Foulger reviewed gene: G6PC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | G6PC3 | Rebecca Foulger Added phenotypes Neutropenia, severe congenital 4, autosomal recessive for gene: G6PC3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | G6PC3 |
Rebecca Foulger gene: G6PC3 was added gene: G6PC3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: G6PC3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: G6PC3 were set to Dursun syndrome |
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