| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Atypical Haemolytic Uraemic Syndrome_MPGN v0.40 | TSEN2 | Zornitza Stark Marked gene: TSEN2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.40 | TSEN2 | Zornitza Stark Gene: tsen2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.40 | TSEN2 | Chirag Patel Classified gene: TSEN2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.40 | TSEN2 | Chirag Patel Gene: tsen2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.39 | TSEN2 |
Chirag Patel gene: TSEN2 was added gene: TSEN2 was added to Atypical Haemolytic Uraemic Syndrome_MPGN. Sources: Literature Mode of inheritance for gene: TSEN2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TSEN2 were set to PMID: 34964109 Phenotypes for gene: TSEN2 were set to TRACK syndrome Review for gene: TSEN2 was set to GREEN Added comment: Biallelic variants in TSEN2 cause pontocerebellar hypoplasia. Canpolat et a. (2022) report an intronic recessive founder variant in TSEN2 that results in abnormal splicing of the mRNA of this gene, in 6 individuals from 4 consanguineous families. Individuals were affected with microcephaly, craniofacial malformations, CNS abnormalities, cognitive retardation of variable severity, and all individuals developed atypical hemolytic uremic syndrome (aHUS) with thrombotic microangiopathy, microangiopathic hemolytic anemia, thrombocytopenia, proteinuria, severe hypertension, and end-stage kidney disease (ESKD) early in life. Bulk RNA sequencing of peripheral blood cells of 4 affected individuals revealed abnormal tRNA transcripts, indicating an alteration of the tRNA biogenesis. Morpholino-mediated skipping of exon 10 of tsen2 in zebrafish produced phenotypes similar to human patients. Proposed as TRACK syndrome (TSEN2 Related Atypical hemolytic uremic syndrome, Craniofacial malformations, Kidney failure). Sources: Literature |
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