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| Mendeliome v2.335 | NCOA1 |
Zornitza Stark gene: NCOA1 was added gene: NCOA1 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: NCOA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NCOA1 were set to 35137184; 30979869 Phenotypes for gene: NCOA1 were set to Inherited obesity, MONDO:0019182, NCOA1-related Review for gene: NCOA1 was set to AMBER Added comment: PMID 30979869 reports 16 individuals from 16 families and PMID 35137184 reports 47 individuals from 22 families with heterozygous NCOA1 missense variants presenting with severe early‑onset obesity (BMI SD > 3, onset < 10 y) often accompanied by hyperphagia, endocrine abnormalities (partial thyroid‑hormone resistance, menorrhagia) and bone fractures. Functional assays in PMID 30979869 demonstrate effects on STAT3‑POMC signalling, whereas PMID 35137184 provides a larger cohort lacking variant‑specific functional validation and includes several variants with population frequencies well above the monoallelic threshold. Many of the variants also lack segregation data. Hence Amber rating. Sources: Literature |
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| Mendeliome v2.0 | POMC | Gene migrated from ENSG00000115138 to ENSG00000115138 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.9581 | POMC | Zornitza Stark Marked gene: POMC as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.9581 | POMC | Zornitza Stark Gene: pomc has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.9581 | POMC | Zornitza Stark Phenotypes for gene: POMC were changed from to Obesity, adrenal insufficiency, and red hair due to POMC deficiency MIM#609734 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.9580 | POMC | Zornitza Stark Publications for gene: POMC were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.9563 | POMC | Zornitza Stark Mode of inheritance for gene: POMC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.9562 | POMC | Zornitza Stark reviewed gene: POMC: Rating: GREEN; Mode of pathogenicity: None; Publications: 33666293; Phenotypes: Obesity, adrenal insufficiency, and red hair due to POMC deficiency MIM#609734; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.0 | POMC |
Zornitza Stark gene: POMC was added gene: POMC was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: POMC was set to Unknown |
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