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Fetal anomalies v0.135 FRMD7 Rebecca Foulger Source Expert Review Red was added to FRMD7.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.134 FRMD7 Rebecca Foulger edited their review of gene: FRMD7: 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: Phenotype is not fetally-relevant. Action taken: Demoted FRMD7 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.9 FRMD7 Rebecca Foulger reviewed gene: FRMD7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.1 FRMD7 Rebecca Foulger gene: FRMD7 was added
gene: FRMD7 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: FRMD7 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: FRMD7 were set to NYSTAGMUS 1, CONGENITAL, X-LINKED