| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mendeliome v0.5630 | CCDC141 | Bryony Thompson Marked gene: CCDC141 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.5630 | CCDC141 | Bryony Thompson Gene: ccdc141 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.5629 | CCDC141 | Bryony Thompson Classified gene: CCDC141 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.5629 | CCDC141 | Bryony Thompson Gene: ccdc141 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.5628 | CCDC141 |
Bryony Thompson gene: CCDC141 was added gene: CCDC141 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: CCDC141 was set to Unknown Publications for gene: CCDC141 were set to 27014940; 28324054; 25192046 Phenotypes for gene: CCDC141 were set to Anosmic hypogonadotropic hypogonadism Review for gene: CCDC141 was set to AMBER Added comment: A consanguineous family had a homozygous nonsense variant, but also had a homozygous missense in FEZF1. 3 other families reported with heterozygous variants, but other variants in other genes present. In an olfactory mouse model, Ccdc141 is expressed in GnRH neurons and olfactory fibers and that knockdown of Ccdc141 reduces GnRH neuronal migration. Sources: Literature |
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