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| Hypogonadotropic hypogonadism v0.84 | TTC26 | Chirag Patel Marked gene: TTC26 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism v0.84 | TTC26 | Chirag Patel Gene: ttc26 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism v0.84 | TTC26 |
Chirag Patel gene: TTC26 was added gene: TTC26 was added to Hypogonadotropic hypogonadism. Sources: Literature Mode of inheritance for gene: TTC26 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TTC26 were set to 32617964 Phenotypes for gene: TTC26 were set to biliary, renal, neurologic, and skeletal syndrome, MONDO:0859191 Review for gene: TTC26 was set to RED Added comment: PMID 32617964 reports 4 individuals from 2 unrelated consanguineous families with the same homozygous TTC26 variant (c.695A>G, p.Asn232Ser) presenting with pituitary stalk interruption syndrome (PSIS) and multiple anterior pituitary hormone deficiencies (GH, ACTH, TSH), micropenis, growth failure, and additional hepatic, renal, cardiac and skeletal anomalies. The phenotype also includes features of hypogonadotropic hypogonadism (micropenis). No functional validation of the missense variant is provided. Sources: Literature |
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