| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.386 | YTHDC2 | Zornitza Stark Marked gene: YTHDC2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.386 | YTHDC2 | Zornitza Stark Gene: ythdc2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.366 | YTHDC2 | Chirag Patel Classified gene: YTHDC2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.366 | YTHDC2 | Chirag Patel Gene: ythdc2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.365 | YTHDC2 |
Chirag Patel gene: YTHDC2 was added gene: YTHDC2 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Genomics England PanelApp Mode of inheritance for gene: YTHDC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: YTHDC2 were set to 29033321, 29360036, 35138268 Phenotypes for gene: YTHDC2 were set to Primary ovarian failure, MONDO:0005387 Review for gene: YTHDC2 was set to GREEN Added comment: 2 different homozygous variants in YTHDC2 gene in 3 women from 2 families with early-onset POI (c. 2567C>G, p.P856R; c.1129G>T, p.E377*). They demonstrated that YTHDC2 is expressed in the developing human fetal ovary and is upregulated in meiotic germ cells, together with related meiosis-associated factors. The p.P856R variant resulted in a less flexible protein that likely disrupted downstream conformational kinetics of the HA2 domain, whereas the p.E377* variant truncated the helicase core. Ythdc2, an RNA helicase and N6-methyladenosine reader, has been shown to be a regulator of meiosis in mice. Sources: Genomics England PanelApp |
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