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| Severe early-onset obesity v2.0 | MC3R | Gene migrated from ENSG00000124089 to ENSG00000124089 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe early-onset obesity v1.34 | MC3R | Zornitza Stark Marked gene: MC3R as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe early-onset obesity v1.34 | MC3R | Zornitza Stark Gene: mc3r has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe early-onset obesity v1.34 | Zornitza Stark Copied gene MC3R from panel Mendeliome | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe early-onset obesity v1.34 | MC3R |
Zornitza Stark gene: MC3R was added gene: MC3R was added to Severe early-onset obesity. Sources: Expert Review Amber,Victorian Clinical Genetics Services Mode of inheritance for gene: MC3R was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MC3R were set to 39462520; 37820740; 37329217 Phenotypes for gene: MC3R were set to {Obesity, severe, susceptibility to, BMIQ9} 602025 |
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| Severe early-onset obesity v1.30 | MRAP2 | Zornitza Stark edited their review of gene: MRAP2: Added comment: Multiple studies PMIDs 31700171, 27474872, 37888144, 40822950, 29704154, 39574659a report 31 individuals from 13 unrelated families carrying heterozygous loss‑of‑function MRAP2 variants that cause early‑onset severe obesity, hyperphagia, hypertension and hyperglycaemia. Functional assays in CHO and HEK293 cells demonstrate reduced MC4R/MC3R‑dependent cAMP signaling, supporting a loss‑of‑function mechanism.; Changed rating: GREEN; Changed publications: 40822950, 39574659, 37888144, 33026327, 31700171, 29704154, 27474872 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||