| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hypogonadotropic hypogonadism v0.102 | AMH | Chirag Patel Classified gene: AMH as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism v0.102 | AMH | Chirag Patel Gene: amh has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism v0.101 | AMH | Chirag Patel Marked gene: AMH as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism v0.101 | AMH | Chirag Patel Gene: amh has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism v0.101 | AMH |
Chirag Patel gene: AMH was added gene: AMH was added to Hypogonadotropic hypogonadism. Sources: Literature Mode of inheritance for gene: AMH was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: AMH were set to 31291191 Phenotypes for gene: AMH were set to Hypogonadotropic hypogonadism, MONDO:0018555 Review for gene: AMH was set to AMBER Added comment: PMID 31291191 reports 3 individuals from 3 unrelated families with heterozygous missense variants in AMH gene (p.Thr99Ser, p.Pro151Ser, p.Asp238Glu). They presented with childhood‑onset hypogonadotropic hypogonadism (CHH) often with variable anosmia (Kallmann syndrome). Two variants were inherited from an affected parent, and 1 variant had unknown parental status. Functional studies demonstrated significantly reduced AMH secretion in transfected COS-7 cells, impaired GnRH‑neuron migration, and decreased GnRH release. AMH is expressed in migratory GnRH neurons in both mouse and human fetuses. Sources: Literature |
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