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Fetal anomalies v0.314 | EIF2B2 | Rebecca Foulger Added comment: Comment on mode of inheritance: Biallelic inheritance matches AR/compound het variant identified in Normand et al., 2018 (PMID:30266093) and MIM:2603896. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.314 | EIF2B2 | Rebecca Foulger Mode of inheritance for gene: EIF2B2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.311 | EIF2B2 | Rebecca Foulger reviewed gene: EIF2B2: Rating: GREEN; Mode of pathogenicity: ; Publications: 28597716; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.310 | EIF2B2 |
Rebecca Foulger gene: EIF2B2 was added gene: EIF2B2 was added to Fetal anomalies. Sources: Expert Review Green,Literature Mode of inheritance for gene: EIF2B2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EIF2B2 were set to 30266093; 28597716 Phenotypes for gene: EIF2B2 were set to Leukoencephalopathy with vanishing white matter, 603896 |