Activity
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| Paediatric disorders - additional genes v7.3 | MC4R | Arina Puzriakova Classified gene: MC4R as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v7.3 | MC4R | Arina Puzriakova Added comment: Comment on list classification: This gene should be promote to Green at the next GMS panel update. There is sufficient evidence to support this gene-disease association (variants in the MC4R gene are the most common cause of monogenic obesity, >3 cases). As highlighted in the review by Ian Berry, the R27 panel represents an alternative test to R149 that may be requested for these patients which warrants inclusion of the MC4R gene on this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v7.3 | MC4R | Arina Puzriakova Gene: mc4r has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v7.2 | MC4R | Arina Puzriakova Phenotypes for gene: MC4R were changed from to Obesity (BMIQ20), OMIM:618406; {Obesity, resistence to (BMIQ20)}, OMIM:618306 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v7.1 | MC4R |
Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: MC4R. Tag Q3_25_NHS_review tag was added to gene: MC4R. |
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| Paediatric disorders - additional genes v7.1 | MC4R |
Ian Berry gene: MC4R was added gene: MC4R was added to Paediatric disorders - additional genes. Sources: Expert Review Mode of inheritance for gene: MC4R was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Penetrance for gene: MC4R were set to Incomplete Review for gene: MC4R was set to GREEN Added comment: Well-established OMIM association. Gene on R149 Severe Early Onset Obesity panel (green). Many R27 referrals include ID & obesity/overgrowth so may be a partial explanation for many patients referred. This is the primary/most common R149 gene that it not currently on the R27 panel and inclusion would minimise management of re-analysis requests for R149 for patient who meet both the R27 and potentially R149 eligibility criteria. Sources: Expert Review |
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