| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Monogenic Diabetes v0.172 | TARS2 | Chirag Patel Marked gene: TARS2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic Diabetes v0.172 | TARS2 | Chirag Patel Gene: tars2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic Diabetes v0.172 | TARS2 | Chirag Patel Classified gene: TARS2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic Diabetes v0.172 | TARS2 | Chirag Patel Gene: tars2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic Diabetes v0.171 | TARS2 |
Chirag Patel gene: TARS2 was added gene: TARS2 was added to Monogenic Diabetes. Sources: Expert List Mode of inheritance for gene: TARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TARS2 were set to 39509107 Phenotypes for gene: TARS2 were set to Combined oxidative phosphorylation defect type 21, MONDO:0014398 Review for gene: TARS2 was set to AMBER Added comment: 4 individuals diagnosed with diabetes (3 neonatal and 1 at 52 weeks) shared a rare homozygous missense variant c.980G>A, p.(Arg327Gln), in TARS2. One proband had epilepsy, one had development delay and two had both. On haplotype analysis, individuals 1, 3 and 4 shared a 1.8 Mb region (including TARS2), indicating inheritance from a common ancestor. Individual 2 did not share a haplotype. The reported variant is rare (9 alleles in gnomAD v4.1.0, no homozygotes); Revel score = 0.32, Uncertain. Authors hypothesise that homozygous missense variants specifically in the TARS2 301‐381aa region may impair binding of TARS2 to Rag GTPases and disrupt the mTORC1 signalling pathway, leading to β‐cell dysfunction. Sources: Expert List |
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