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| Hypogonadotropic hypogonadism v1.1 | PTTG1 | chirag patel Marked gene: PTTG1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism v1.1 | PTTG1 | chirag patel Gene: pttg1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism v1.1 | PTTG1 |
chirag patel gene: PTTG1 was added gene: PTTG1 was added to Hypogonadotropic hypogonadism. Sources: Literature Mode of inheritance for gene: PTTG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PTTG1 were set to 30608578 Phenotypes for gene: PTTG1 were set to Delayed puberty, self-limited, MONDO:0859205 Review for gene: PTTG1 was set to RED Added comment: 5 individuals from 2 unrelated families presenting with self‑limited delayed puberty (constitutional delay of puberty). They identified 2 rare heterozygous EAP1 variants (p.Ala221del and p.Asn770His), which segregated with affected individuals in the families. Functional assays (luciferase reporter, Western blot, immunofluorescence) demonstrated reduced GnRH promoter activity and protein mislocalisation. Red rating as phenotype is NOT hypogonadotropic hypogonadism. Sources: Literature |
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