| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Severe early-onset obesity v2.1 | SH2B1 | chirag patel Marked gene: SH2B1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe early-onset obesity v2.1 | SH2B1 | chirag patel Gene: sh2b1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe early-onset obesity v2.1 | chirag patel Copied gene SH2B1 from panel Mendeliome | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe early-onset obesity v2.1 | SH2B1 |
chirag patel gene: SH2B1 was added gene: SH2B1 was added to Severe early-onset obesity. Sources: Expert Review Green,Literature Mode of inheritance for gene: SH2B1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SH2B1 were set to 37329217; 31439647; 29216354 Phenotypes for gene: SH2B1 were set to Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency, MONDO:0017994 |
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| Severe early-onset obesity v0.70 | Zornitza Stark removed gene:SH2B1 from the panel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe early-onset obesity v0.59 | SH2B1 | Belinda Chong reviewed gene: SH2B1: Rating: RED; Mode of pathogenicity: None; Publications: 19079260, 32251290, 33214137; Phenotypes: Chromosome 16p11.2 deletion syndrome, 220kb 613444; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe early-onset obesity v0.0 | SH2B1 |
Zornitza Stark gene: SH2B1 was added gene: SH2B1 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Amber Mode of inheritance for gene: SH2B1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SH2B1 were set to 24971614; 28663568; 23160192; 20808231 Phenotypes for gene: SH2B1 were set to Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency, MONDO:0017994; obesity |
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