Severe early-onset obesity
Gene: KIDINS220The rating of this gene has been updated to GREEN following NHS Genomic Medicine Service approval.Created: 31 Jan 2023, 2:31 p.m. | Last Modified: 31 Jan 2023, 2:31 p.m.
Panel Version: 3.3
Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update.Created: 18 Nov 2021, 5:09 p.m. | Last Modified: 18 Nov 2021, 5:09 p.m.
Panel Version: 2.45
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: LiteratureCreated: 18 Nov 2021, 5:09 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Spastic paraplegia, intellectual disability, nystagmus, and obesity, OMIM:617296
Publications
Tag Q4_21_rating was removed from gene: KIDINS220.
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)
Gene: kidins220 has been classified as Amber List (Moderate Evidence).
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