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  3. NCKAP1
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Fetal anomalies

Gene: NCKAP1

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

2 reviews

Ida Ertmanska (Genomics England Curator)

This gene and phenotype were reviewed during meetings in July and August 2026. The meetings included representatives of the North Thames and Central and South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Louise Carr (North Thames GLH), Sarah Graham & Elizabeth Young (Central & South GLH), and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Sunayna Best, Soo-Mi Park & Tessa Homfray (R21 Clinical Oversight Group).
Created: 29 Oct 2026, 4:13 p.m. | Last Modified: 29 Oct 2026, 4:13 p.m.
Panel Version: 8.26
Created: 29 Oct 2026, 4:13 p.m.
Last Modified: 29 Oct 2026, 4:13 p.m.
Panel version: 8.26

Natalie Canham (Liverpool Women's Hospital)

Red List (low evidence)

convincing evidence for assoc with NDD (mostly autism) but single case report with TAPVD as well.
Created: 29 Oct 2026, 3:51 p.m. | Last Modified: 29 Oct 2026, 3:51 p.m.
Panel Version: 8.25

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
congenital heart disease, MONDO:0005453; neurodevelopmental disorder, MONDO:0700092

Publications

Created: 29 Oct 2026, 3:51 p.m.
Last Modified: 29 Oct 2026, 3:51 p.m.
Panel version: 8.25

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • congenital heart disease, MONDO:0005453
  • neurodevelopmental disorder, MONDO:0700092
OMIM
604891
Clinvar variants
Variants in NCKAP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Oct 2026, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ida Ertmanska (Genomics England Curator)

gene: NCKAP1 was added gene: NCKAP1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: NCKAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NCKAP1 were set to 41462819 Phenotypes for gene: NCKAP1 were set to congenital heart disease, MONDO:0005453; neurodevelopmental disorder, MONDO:0700092