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DDG2P

Gene: NKAP

Green List (high evidence)
NKAP (NFKB activating protein)
EnsemblGeneIds (GRCh38): ENSG00000101882
EnsemblGeneIds (GRCh37): ENSG00000101882
OMIM: 300766, Gene2Phenotype
NKAP is in 2 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for NKAP-related marfanoid habitus and cognitive impairment are strong, monoallelic_X_hemizygous and undetermined (PMID:31587868). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02830.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease Marfanoid Habitus and Cognitive Impairment is strong. The allelic requirement and mutation consequence are monoallelic_X_hem and altered gene product structure (PMID:31587868).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
MONDO:0026733; NKAP-related marfanoid habitus and cognitive impairment; Marfanoid Habitus and Cognitive Impairment; OMIM:301039.0

Publications

Mode of pathogenicity
Other

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 6.17

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Marfanoid Habitus and Cognitive Impairment
OMIM
300766
Clinvar variants
Variants in NKAP
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2026, Gel status: 3

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: NKAP was changed from Other to None

4 Oct 2023, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: NKAP was added gene: NKAP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NKAP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: NKAP were set to 31587868 Phenotypes for gene: NKAP were set to Marfanoid Habitus and Cognitive Impairment Mode of pathogenicity for gene: NKAP was set to Other