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| Mendeliome v1.629 | HTR2C |
Zornitza Stark gene: HTR2C was added gene: HTR2C was added to Mendeliome. Sources: Literature Mode of inheritance for gene: HTR2C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: HTR2C were set to 36536256 Phenotypes for gene: HTR2C were set to Obesity disorder, MONDO:0011122, HTR2C-related Review for gene: HTR2C was set to GREEN Added comment: Exome sequencing of 2,548 people with severe obesity and 1,117 control individuals without obesity identified 13 rare variants in the gene encoding 5-HT2CR (HTR2C) in 19 unrelated people (3 males and 16 females). Eleven variants caused a loss of function in HEK293 cells. All people who carried variants had hyperphagia and some degree of maladaptive behavior. Obesity was severe, childhood-onset. Knock-in male mice harboring a human loss-of-function HTR2C variant developed obesity and reduced social exploratory behavior; female mice heterozygous for the same variant showed similar deficits with reduced severity. Sources: Literature |
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| Mendeliome v0.10358 | ALAD | Zornitza Stark Marked gene: ALAD as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.10358 | ALAD | Zornitza Stark Gene: alad has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.10358 | ALAD | Zornitza Stark Phenotypes for gene: ALAD were changed from to Porphyria, acute hepatic , MIM#612740 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.10357 | ALAD | Zornitza Stark Publications for gene: ALAD were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.10356 | ALAD | Zornitza Stark Mode of inheritance for gene: ALAD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.10355 | ALAD | Zornitza Stark reviewed gene: ALAD: Rating: GREEN; Mode of pathogenicity: None; Publications: 16343966, 30724374, 2063868, 1569184, 15303011; Phenotypes: Porphyria, acute hepatic , MIM#612740; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.0 | ALAD |
Zornitza Stark gene: ALAD was added gene: ALAD was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ALAD was set to Unknown |
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