Activity
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| Severe early-onset obesity v5.4 | GNB1 | Achchuthan Shanmugasundram Classified gene: GNB1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe early-onset obesity v5.4 | GNB1 | Achchuthan Shanmugasundram Gene: gnb1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe early-onset obesity v5.3 | GNB1 |
Achchuthan Shanmugasundram changed review comment from: PMID:38596856 reported three unrelated cases reported with either splicing or truncating variants in GNB1 gene and obesity. Although two of them were reported to start gain weight before 5 years of age, there were no information on their weight or BMI at onset. Hence, we cannot determine the severity of obesity at onset. The third case was reported to have obesity around 9 years of age. This study also reviewed previously published cases, where two cases were reported with early-onset obesity (<5 years). However, not much information was available to ascertain the severity. As per the eligibility criteria on the National Genomic Test Directory (https://www.england.nhs.uk/wp-content/uploads/2018/08/rare-inherited-disease-eligibility-criteria-v8.0.pdf), the patients should have BMI more than 3 standard deviations above the mean, with onset before the age of 5 years. Hence, this gene should be rated amber with the current evidence.; to: PMID:38596856 reported three unrelated cases reported with either splicing or truncating variants in GNB1 gene and obesity. Although two of them were reported to start gain weight before 5 years of age, there were no information on their weight or BMI at onset. Hence, we cannot determine the severity of obesity at onset. The third case was reported to have obesity around 9 years of age. This study also reviewed previously published cases, where two cases were reported with early-onset obesity (<5 years). However, complete information was not available to ascertain the severity. As per the eligibility criteria on the National Genomic Test Directory (https://www.england.nhs.uk/wp-content/uploads/2018/08/rare-inherited-disease-eligibility-criteria-v8.0.pdf), the patients should have BMI more than 3 standard deviations above the mean, with onset before the age of 5 years. Hence, this gene should be rated amber with the current evidence. |
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| Severe early-onset obesity v5.3 | GNB1 |
Achchuthan Shanmugasundram edited their review of gene: GNB1: Added comment: PMID:38596856 reported three unrelated cases reported with either splicing or truncating variants in GNB1 gene and obesity. Although two of them were reported to start gain weight before 5 years of age, there were no information on their weight or BMI at onset. Hence, we cannot determine the severity of obesity at onset. The third case was reported to have obesity around 9 years of age. This study also reviewed previously published cases, where two cases were reported with early-onset obesity (<5 years). However, not much information was available to ascertain the severity. As per the eligibility criteria on the National Genomic Test Directory (https://www.england.nhs.uk/wp-content/uploads/2018/08/rare-inherited-disease-eligibility-criteria-v8.0.pdf), the patients should have BMI more than 3 standard deviations above the mean, with onset before the age of 5 years. Hence, this gene should be rated amber with the current evidence.; Changed rating: AMBER |
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| Severe early-onset obesity v5.3 | GNB1 | Achchuthan Shanmugasundram Publications for gene: GNB1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe early-onset obesity v5.2 | GNB1 | Achchuthan Shanmugasundram Phenotypes for gene: GNB1 were changed from PMID: 38596856 to Obesity, HP:0001513 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe early-onset obesity v5.1 | GNB1 | Achchuthan Shanmugasundram reviewed gene: GNB1: Rating: RED; Mode of pathogenicity: None; Publications: 38596856; Phenotypes: Obesity, HP:0001513; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe early-onset obesity v4.12 | GNB1 |
Dmitrijs Rots gene: GNB1 was added gene: GNB1 was added to Severe early-onset obesity. Sources: Literature Mode of inheritance for gene: GNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: GNB1 were set to PMID: 38596856 Review for gene: GNB1 was set to GREEN Added comment: 75% of cases with truncating variants present with obesity as described in PMID: 38596856 Sources: Literature |
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