| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Severe early-onset obesity v3.3 | KIDINS220 | Catherine Snow Tag Q4_21_rating was removed from gene: KIDINS220. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe early-onset obesity v3.3 | KIDINS220 | Catherine Snow commented on gene: KIDINS220 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe early-onset obesity v3.2 | KIDINS220 |
Catherine Snow Source Expert Review Green was added to KIDINS220. Source NHS GMS was added to KIDINS220. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Severe early-onset obesity v2.45 | KIDINS220 | Arina Puzriakova Classified gene: KIDINS220 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe early-onset obesity v2.45 | KIDINS220 | Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe early-onset obesity v2.45 | KIDINS220 | Arina Puzriakova Gene: kidins220 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe early-onset obesity v2.44 | KIDINS220 |
Arina Puzriakova gene: KIDINS220 was added gene: KIDINS220 was added to Severe early-onset obesity. Sources: Literature Q4_21_rating tags were added to gene: KIDINS220. Mode of inheritance for gene: KIDINS220 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KIDINS220 were set to 27005418; 29667355; 33763417 Phenotypes for gene: KIDINS220 were set to Spastic paraplegia, intellectual disability, nystagmus, and obesity, OMIM:617296 Review for gene: KIDINS220 was set to GREEN Added comment: Seven individuals from five unrelated families have been reported with spastic paraplegia, intellectual disability, nystagmus, and obesity (SINO) syndrome (OMIM:617296) associated with monoallelic variants in the KIDINS220 gene. Phenotypes include early-onset obesity and, where indicated, this translates to a weight above the 99th percentile in infancy. Sources: Literature |
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