| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Pituitary hormone deficiency v0.152 | ANOS1 | Chirag Patel Marked gene: ANOS1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.152 | ANOS1 | Chirag Patel Gene: anos1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.128 | Chirag Patel Copied gene ANOS1 from panel Hypogonadotropic hypogonadism | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.128 | ANOS1 |
Chirag Patel gene: ANOS1 was added gene: ANOS1 was added to Pituitary hormone deficiency. Sources: Victorian Clinical Genetics Services,Expert Review Green,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ANOS1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: ANOS1 were set to 1594017; 8504298; 8989261 Phenotypes for gene: ANOS1 were set to Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), MIM# 308700 |
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| Pituitary hormone deficiency v0.78 | NOS1 | Chirag Patel Classified gene: NOS1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.78 | NOS1 | Chirag Patel Gene: nos1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.77 | NOS1 | Chirag Patel Marked gene: NOS1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.77 | NOS1 | Chirag Patel Gene: nos1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.77 | NOS1 |
Chirag Patel gene: NOS1 was added gene: NOS1 was added to Pituitary hormone deficiency. Sources: Literature Mode of inheritance for gene: NOS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NOS1 were set to 36197968 Phenotypes for gene: NOS1 were set to Hypogonadotropic hypogonadism, MONDO:0018555 Review for gene: NOS1 was set to GREEN Added comment: 6 unrelated individuals with congenital hypogonadotropic hypogonadism, anosmia (3/6), hearing loss (2/6), and intellectual disability (1/6). WES identified 5 rare heterozygous missense variants in NOS1 gene. The variant was inherited from an unaffected or partially affected parent in 4 families. In‑vitro assays (Western blot, calcium‑induced NO release, fluorometric nitrate assay, co‑immunoprecipitation) showed loss‑of‑function and dominant‑negative activity. NOS1 was found to be transiently expressed by GnRH neurons in the nose of both humans and mice, and Nos1 deficiency in mice resulted in dose-dependent defects in sexual maturation as well as in olfaction, hearing, and cognition. Inhaled NO treatment at minipuberty rescued both reproductive and behavioral phenotypes in Nos1-deficient mice. Sources: Literature |
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