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Fetal anomalies v3.63 | TRMU | Arina Puzriakova Publications for gene: TRMU were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.8 | TRMU | Stephanie Allen commented on gene: TRMU: This gene and phenotype were reviewed during a meeting on 2nd March 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, (North Thames GLH), and Stephanie Allen, Denise Williams, Anna de Burca 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 Red gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.8 | TRMU | Stephanie Allen reviewed gene: TRMU: Rating: RED; Mode of pathogenicity: ; Publications: 23625533; Phenotypes: Liver failure, transient infantile, OMIM:613070; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.7 | TRMU |
Arina Puzriakova gene: TRMU was added gene: TRMU was added to Fetal anomalies. Sources: Expert Review Red Mode of inheritance for gene: TRMU was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TRMU were set to Liver failure, transient infantile, OMIM:613070 |