| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hypogonadotropic hypogonadism v0.132 | NEUROG3 | Chirag Patel Classified gene: NEUROG3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism v0.132 | NEUROG3 | Chirag Patel Gene: neurog3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism v0.131 | NEUROG3 | Chirag Patel Marked gene: NEUROG3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism v0.131 | NEUROG3 | Chirag Patel Gene: neurog3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism v0.131 | NEUROG3 |
Chirag Patel gene: NEUROG3 was added gene: NEUROG3 was added to Hypogonadotropic hypogonadism. Sources: Literature Mode of inheritance for gene: NEUROG3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NEUROG3 were set to 36149814; 27533310 Phenotypes for gene: NEUROG3 were set to Congenital malabsorptive diarrhea 4, MONDO:0012479; Hypogonadotropic hypogonadism, MONDO:0018555 Review for gene: NEUROG3 was set to GREEN Added comment: PMID 27533310 reports 4 individuals from 3 families with 2 different homozygous rare missense variants (p.L135P and p.R107S) in NEUROG3 presenting with hypogonadotropic hypogonadism, congenital malabsorptive diarrhea, neonatal diabetes and short stature. No functional studies. PMID 36149814 describes 3 unrelated Thai patients with families with 2 different homozygous rare missense variants ((p.Thr124Arg and p.Arg95Pro) in NEUROG3 presenting with multiple pituitary hormone deficiencies (GH deficiency and hypogonadotropic hypogonadism). Luciferase reporter assay showing markedly reduced transcriptional activity for both variants and western blot confirmed protein expression, indicating loss‑of‑function. Sources: Literature |
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