Intellectual disabilityGene: KIDINS220 Green List (high evidence)
Comment on phenotypes: added missing phenotype
Created: 21 Dec 2017, 4:41 p.m.
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.
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
Source Victorian Clinical Genetics Services was added to KIDINS220.
KIDINS220 was added to Intellectual disability panel. Sources: Expert Review Green
KIDINS220 was created by Sarah Leigh
If promoting or demoting a gene, please provide comments to justify a decision to move it.
We classify loss-of-function variants as those with the following Sequence Ontology (SO) terms:
Term descriptions can be found on the PanelApp homepage and Ensembl.
A variant on one allele of this gene can cause the disease, and imprinting has not been implicated.