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| Fetal anomalies v0.312 | NDUFAF5 | 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:618238. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.312 | NDUFAF5 | Rebecca Foulger Mode of inheritance for gene: NDUFAF5 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.311 | NDUFAF5 | Rebecca Foulger reviewed gene: NDUFAF5: Rating: GREEN; Mode of pathogenicity: ; Publications: 18940309, 21620786, 30266093; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.310 | NDUFAF5 |
Rebecca Foulger gene: NDUFAF5 was added gene: NDUFAF5 was added to Fetal anomalies. Sources: Expert Review Green,Literature Mode of inheritance for gene: NDUFAF5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFAF5 were set to 18940309; 30266093; 21620786 Phenotypes for gene: NDUFAF5 were set to Mitochondrial complex I deficiency, nuclear type 16, 618238 |
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