Autism
Gene: NCKAP1
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: 9 Nov 2020, 7:16 a.m. | Last Modified: 9 Nov 2020, 7:16 a.m.
Panel Version: 0.114
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Intellectual disability; autism
Publications
Phenotypes for gene: NCKAP1 were changed from Intellectual disability; autism to Neurodevelopmental disorder (MONDO#0700092), NCKAP1-related
Gene: nckap1 has been classified as Green List (High Evidence).
Phenotypes for gene: NCKAP1 were changed from to Intellectual disability; autism
Publications for gene: NCKAP1 were set to
Mode of inheritance for gene: NCKAP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
gene: NCKAP1 was added gene: NCKAP1 was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: NCKAP1 was set to Unknown