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| Fetal anomalies v3.57 | SFXN4 | Arina Puzriakova Publications for gene: SFXN4 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v3.8 | SFXN4 | Stephanie Allen commented on gene: SFXN4: This gene and phenotype were reviewed during a meeting on 23rd Feb 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Natalie Chandler (North Thames GLH), and Stephanie Allen, Esther Kinning and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Amber gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v3.8 | SFXN4 | Stephanie Allen reviewed gene: SFXN4: Rating: AMBER; Mode of pathogenicity: ; Publications: 24119684; Phenotypes: Combined oxidative phosphorylation deficiency 18, OMIM:615578; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v3.7 | SFXN4 |
Arina Puzriakova gene: SFXN4 was added gene: SFXN4 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: SFXN4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SFXN4 were set to Combined oxidative phosphorylation deficiency 18, OMIM:615578 |
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