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Intellectual disability

Gene: KIDINS220

Green List (high evidence)

KIDINS220 (kinase D interacting substrate 220)
EnsemblGeneIds (GRCh38): ENSG00000134313
EnsemblGeneIds (GRCh37): ENSG00000134313
OMIM: 615759, Gene2Phenotype
KIDINS220 is in 8 panels

3 reviews

Louise Daugherty (Genomics England Curator)

Comment on phenotypes: added missing phenotype
Created: 21 Dec 2017, 4:41 p.m.

Helen Brittain (Genomics England Curator)

Comment when marking as ready: Appropriate phenotype; presenting with rapid weight gain in infancy and global developmental delay
Created: 21 Dec 2017, 11:08 a.m.

Olivia Niblock (Genomics England Curator)

Green List (high evidence)

There are three unrelated patients with intellectual disability phenotypes documented with different variants in this gene.
Created: 13 Dec 2017, 10:16 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Publications

Details

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

History Filter Activity

28 Sep 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to KIDINS220.

12 Mar 2018, Gel status: 4

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

4 Jan 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

KIDINS220 was added to Intellectual disability panel. Sources: Expert Review Green

4 Jan 2018, Gel status: 4

Created

Sarah Leigh (Genomics England Curator)

KIDINS220 was created by Sarah Leigh