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| Mendeliome v1.4752 | 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; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.1514 | MC4R | Zornitza Stark Marked gene: MC4R as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.1514 | MC4R | Zornitza Stark Gene: mc4r has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.1514 | MC4R | Zornitza Stark Phenotypes for gene: MC4R were changed from to {Obesity, resistence to (BMIQ20)} 618306; Obesity (BMIQ20) 618406 AD, AR | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.1513 | MC4R | Zornitza Stark Publications for gene: MC4R were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.1512 | MC4R | Zornitza Stark Mode of inheritance for gene: MC4R was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.1473 | MC4R | Michelle Torres reviewed gene: MC4R: Rating: GREEN; Mode of pathogenicity: None; Publications: 29970488; Phenotypes: {Obesity, resistence to (BMIQ20)} 618306, Obesity (BMIQ20) 618406 AD, AR; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.0 | MC4R |
Zornitza Stark gene: MC4R was added gene: MC4R was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: MC4R was set to Unknown |
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