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  3. NCKAP1
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Intellectual disability syndromic and non-syndromic

Gene: NCKAP1

Green List (high evidence)
NCKAP1 (NCK associated protein 1)
EnsemblGeneIds (GRCh38): ENSG00000061676
EnsemblGeneIds (GRCh37): ENSG00000061676
OMIM: 604891, Gene2Phenotype
NCKAP1 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; 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: 9 Nov 2020, 7:10 a.m. | Last Modified: 9 Nov 2020, 7:10 a.m.
Panel Version: 0.3181

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Intellectual disability; autism

Publications

Created: 9 Nov 2020, 7:10 a.m.
Last Modified: 9 Nov 2020, 7:10 a.m.
Panel version: 0.3181

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Neurodevelopmental disorder (MONDO#0700092)​​​​​​​, NCKAP1-related
OMIM
604891
Clinvar variants
Variants in NCKAP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Sep 2023, Gel status: 3

Set Phenotypes

Ain Roesley (Victorian Clinical Genetics Services)

Phenotypes for gene: NCKAP1 were changed from Neurodevelopmental disorder (MONDO#0700092)​​​​​​​, NCKAP1-related to Neurodevelopmental disorder (MONDO#0700092)​​​​​​​, NCKAP1-related

25 Sep 2023, Gel status: 3

Set Phenotypes

Ain Roesley (Victorian Clinical Genetics Services)

Phenotypes for gene: NCKAP1 were changed from Intellectual disability; autism to Neurodevelopmental disorder (MONDO#0700092)​​​​​​​, NCKAP1-related

9 Nov 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nckap1 has been classified as Green List (High Evidence).

9 Nov 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

9 Nov 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NCKAP1 were set to

9 Nov 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NCKAP1 was added gene: NCKAP1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NCKAP1 was set to Unknown