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Intellectual disability

Gene: NCKAP1

Red List (low evidence)

NCKAP1 (NCK associated protein 1)
EnsemblGeneIds (GRCh38): ENSG00000061676
EnsemblGeneIds (GRCh37): ENSG00000061676
OMIM: 604891, Gene2Phenotype
NCKAP1 is in 2 panels

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

PMID 33157009 reports 21 affected individuals from 20 unrelated families with predicted deleterious variants in NCKAP1. This includes 16 individuals with de novo (n = 8), transmitted (n = 6), or inheritance unknown (n = 2) truncating variants, two individuals with structural variants, and three with potentially disruptive de novo missense variants. ASD or autistic features, language and motor delay, and variable expression of intellectual or learning disability were common clinical features. Among inherited cases, there was evidence of deleterious variants segregating with neuropsychiatric disorders. Mouse in utero electroporation experiments showed that Nckap1 loss of function promotes neuronal migration during early cortical development.
Created: 11 Apr 2021, 7:44 a.m. | Last Modified: 11 Apr 2021, 7:44 a.m.
Panel Version: 3.1003

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Intellectual disability; autism

Publications

Details

Sources
  • Victorian Clinical Genetics Services
OMIM
604891
Clinvar variants
Variants in NCKAP1
Penetrance
None
Panels with this gene

History Filter Activity

29 Sep 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: NCKAP1 was added gene: NCKAP1 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services Mode of inheritance for gene: NCKAP1 was set to