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| Mendeliome v1.3876 | OTP | Zornitza Stark Marked gene: OTP as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3876 | OTP | Zornitza Stark Gene: otp has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3876 | OTP | Zornitza Stark Classified gene: OTP as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3876 | OTP | Zornitza Stark Gene: otp has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3875 | OTP |
Zornitza Stark gene: OTP was added gene: OTP was added to Mendeliome. Sources: Literature Mode of inheritance for gene: OTP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: OTP were set to 39813316; 29107289 Phenotypes for gene: OTP were set to Obesity disorder, MONDO:0011122, OTP-related Review for gene: OTP was set to AMBER Added comment: PMID 29107289 reports a single individual with a heterozygous missense OTP variant (p.Q153R) presenting with severe early‑onset obesity and attention‑deficit disorder. PMID 39813316 adds five unrelated individuals carrying predicted loss‑of‑function OTP variants and confirms the Q153R case, together implicating heterozygous loss‑of‑function OTP as a cause of early‑onset severe obesity with metabolic comorbidities (type 2 diabetes, dyslipidemia, hepatic steatosis). However, individuals are ascertained from UK Biobank, hence clinical details are sparse. Mouse models with OTP haploinsufficiency or a Q153R knock‑in recapitulate hyperphagia and obesity, providing functional support. Sources: Literature |
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