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| Mendeliome v1.3659 | FGD5 |
Sangavi Sivagnanasundram gene: FGD5 was added gene: FGD5 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: FGD5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FGD5 were set to 32037394; 30232381 Phenotypes for gene: FGD5 were set to tetralogy of fallot MONDO:0008542 Review for gene: FGD5 was set to RED Added comment: Appears to be two separate families reported with different nonsense variants in FGD5 associated with TOF. There is some author and recruitment overlap however there is no compelling evidence to state the two probands are related. 32037394 - one family reported with a nonsense variant in an individual with pulmonary stenosis and dysplastic valve, ASD - Glu322* (variant is absent in gnomAD v4.1) 30232381 (missed this publication) - individual reported with TOF, ASD, AF, hypertension, aortic dilation Arg1225* - present in gnomADv4.1 singleton in EAS population. There is no clear evidence that LoF is the mechanism of disease. No pathogenic variants have been reported in ClinVar at this stage thus the gene should remain as Red till further evidence is provided. Sources: Literature |
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