| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Pituitary hormone deficiency v1.4 | chirag patel Added reviews for gene JAG1 from panel Pituitary hormone deficiency | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v1.3 | JAG1 | chirag patel Marked gene: JAG1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v1.3 | JAG1 | chirag patel Gene: jag1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v1.3 | JAG1 | chirag patel Classified gene: JAG1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v1.3 | JAG1 | chirag patel Gene: jag1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v1.2 | JAG1 |
chirag patel gene: JAG1 was added gene: JAG1 was added to Pituitary hormone deficiency. Sources: Literature Mode of inheritance for gene: JAG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: JAG1 were set to 36729644 Phenotypes for gene: JAG1 were set to Hypogonadotropic hypogonadism, MONDO:0015770, JAG1-related Review for gene: JAG1 was set to AMBER Added comment: 9 unrelated individuals with heterozygous missense JAG1 variants presenting with congenital hypogonadotropic hypogonadism/Kallmann syndrome (GnRH deficiency) and no features of Alagille syndrome. There was no segregation data. Some individuals (6/9) had variants in other HH genes. The ultra‑rare variants (p.R117G, p.F206Y, p.T931I, p.F509L) reduce JAG1 protein levels or cause ER retention in HEK293T cells, and jag1b knock‑down in zebrafish disrupts GnRH neuron migration. Sources: Literature |
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