Genes in panel
Regions in panel
Prev Next

Intellectual disability

Gene: NCKAP1

Amber List (moderate evidence)

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

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update. Guo et al 2020 (PMID:33157009) describe multiple families with inherited and de novo deleterious NCKAP1 variants. Neurodevelopmental features represent the core phenotypes, including autistic features, psychomotor delays, and ID or learning disabilities (10/16 individuals had a diagnosis of mild to severe ID)
Created: 20 Apr 2021, 3:34 p.m. | Last Modified: 20 Apr 2021, 3:34 p.m.
Panel Version: 3.1033

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

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Intellectual disability
  • Autism
Tags
Q2_21_rating
OMIM
604891
Clinvar variants
Variants in NCKAP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Apr 2021, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: NCKAP1.

20 Apr 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: nckap1 has been classified as Amber List (Moderate Evidence).

20 Apr 2021, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: NCKAP1 were changed from to Intellectual disability; Autism

20 Apr 2021, Gel status: 1

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: NCKAP1 were set to

20 Apr 2021, Gel status: 1

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: NCKAP1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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