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| Fetal anomalies v1.36 | MSL3 | Rebecca Foulger Phenotypes for gene: MSL3 were changed from MSL3 syndrome to MSL3 syndrome; Basilicata-Akhtar syndrome, 301032 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.135 | MSL3 | Rebecca Foulger Publications for gene MSL3 were changed from to 30224647 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.134 | MSL3 | Rebecca Foulger edited their review of gene: MSL3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 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: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: MSL3 is not yet associated with a disorder in OMIM, but a recent publication (PMID:30224647) reports a variety of structural features.; Changed rating: GREEN; Changed publications: 30224647 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | MSL3 | Rebecca Foulger reviewed gene: MSL3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | MSL3 |
Rebecca Foulger gene: MSL3 was added gene: MSL3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: MSL3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: MSL3 were set to MSL3 syndrome |
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