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| Fetal anomalies v0.315 | FRMD4A | Rebecca Foulger Added comment: Comment on mode of inheritance: Biallelic inheritance matches AR/homozygous variant identified in Normand et al., 2018 (PMID:30266093) and MIM:616819. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.315 | FRMD4A | Rebecca Foulger Mode of inheritance for gene: FRMD4A was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.311 | FRMD4A | Rebecca Foulger reviewed gene: FRMD4A: Rating: GREEN; Mode of pathogenicity: ; Publications: 25388005, 30214071; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.310 | FRMD4A |
Rebecca Foulger gene: FRMD4A was added gene: FRMD4A was added to Fetal anomalies. Sources: Expert Review Green,Literature Mode of inheritance for gene: FRMD4A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FRMD4A were set to 30266093; 25388005; 30214071 Phenotypes for gene: FRMD4A were set to ?Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia, 616819 |
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