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  2. Severe early-onset obesity
  3. KIDINS220
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Severe early-onset obesity

Gene: KIDINS220

Green List (high evidence)
KIDINS220 (kinase D interacting substrate 220)
EnsemblGeneIds (GRCh38): ENSG00000134313
EnsemblGeneIds (GRCh37): ENSG00000134313
OMIM: 615759, Gene2Phenotype
KIDINS220 is in 10 panels

2 reviews

Catherine Snow (Genomics England)

The 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
Created: 31 Jan 2023, 2:31 p.m.
Last Modified: 31 Jan 2023, 2:31 p.m.
Panel version: 3.3

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

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: Literature
Created: 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

Created: 18 Nov 2021, 5:09 p.m.

Panel version: 2.44

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Spastic paraplegia, intellectual disability, nystagmus, and obesity, OMIM:617296
OMIM
615759
Clinvar variants
Variants in KIDINS220
Penetrance
None
Publications
Panels with this gene

History Filter Activity

31 Jan 2023, Gel status: 3

Removed Tag

Catherine Snow (Genomics England)

Tag Q4_21_rating was removed from gene: KIDINS220.

31 Jan 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Catherine Snow (Genomics England)

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)

18 Nov 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: kidins220 has been classified as Amber List (Moderate Evidence).

18 Nov 2021, Gel status: 1

Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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