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| Mendeliome v2.0 | MC3R | Gene migrated from ENSG00000124089 to ENSG00000124089 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4977 | MC3R | Zornitza Stark Publications for gene: MC3R were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4976 | MC3R | Zornitza Stark Classified gene: MC3R as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4976 | MC3R | Zornitza Stark Gene: mc3r has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4975 | MC3R |
Zornitza Stark edited their review of gene: MC3R: Added comment: PMID 39462520: single individual reported with rare missense variant (3 hets in gnomAD) and severe early onset obesity. PMID 37820740: Reports six unrelated children (ages 7‑17, Chinese or Malay) with heterozygous MC3R missense variants causing severe early‑onset obesity (BMI ≥97th percentile). Four distinct variants (c.97G>A, c.127G>A, c.151G>C, c.437T>A) were identified; functional assays in HEK293 cells showed loss‑of‑function for c.127G>A and c.437T>A, while c.151G>C was neutral and c.97G>A modestly reduced signalling. All variants are present in gnomAD at low frequencies. PMID 37329217: Reports 2 unrelated children each with a heterozygous missense MC3R variant associated with severe obesity. Variants are present in gnomAD at low frequencies.; Changed rating: AMBER; Changed publications: 39462520, 37820740, 37329217 |
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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 v0.14432 | MC3R | Zornitza Stark Marked gene: MC3R as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.14432 | MC3R | Zornitza Stark Gene: mc3r has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.14432 | MC3R | Zornitza Stark Phenotypes for gene: MC3R were changed from to {Obesity, severe, susceptibility to, BMIQ9} 602025 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.14431 | MC3R | Zornitza Stark Mode of inheritance for gene: MC3R was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.14430 | MC3R | Zornitza Stark Classified gene: MC3R as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.14430 | MC3R | Zornitza Stark Gene: mc3r has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.14429 | MC3R | Zornitza Stark reviewed gene: MC3R: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Obesity, severe, susceptibility to, BMIQ9} 602025; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.0 | MC3R |
Zornitza Stark gene: MC3R was added gene: MC3R was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: MC3R was set to Unknown |
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