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DDG2P

Gene: NCDN

Green List (high evidence)
NCDN (neurochondrin)
EnsemblGeneIds (GRCh38): ENSG00000020129
EnsemblGeneIds (GRCh37): ENSG00000020129
OMIM: 608458, Gene2Phenotype
NCDN is in 3 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for NCDN-related neurodevelopmental disorder with seizures (biallelic) are limited, biallelic_autosomal and undetermined (PMID:33711248). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03115. The DDG2P confidence category, allelic requirement and molecular mechanism for NCDN-related neurodevelopmental disorder with seizures (monoallelic) are strong, monoallelic_autosomal and undetermined (PMID:33711248). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03116.
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 NCDN-associated neurodevelopmental disorder with seizures (monoallelic) is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:33711248). The DDG2P confidence category for the disease NCDN-associated neurodevelopmental disorder with seizures (biallelic) is limited. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure (PMID:33711248).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
NCDN-related neurodevelopmental disorder with seizures (biallelic); NCDN-associated neurodevelopmental disorder with seizures (monoallelic); MONDO:0859162; NCDN-associated neurodevelopmental disorder with seizures (biallelic); NCDN-related neurodevelopmental disorder with seizures (monoallelic); OMIM:619373.0

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
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • NCDN-associated neurodevelopmental disorder with seizures (monoallelic)
  • NCDN-associated neurodevelopmental disorder with seizures (biallelic)
OMIM
608458
Clinvar variants
Variants in NCDN
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: NCDN 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: NCDN was added gene: NCDN was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NCDN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NCDN were set to 33711248 Phenotypes for gene: NCDN were set to NCDN-associated neurodevelopmental disorder with seizures (monoallelic); NCDN-associated neurodevelopmental disorder with seizures (biallelic) Mode of pathogenicity for gene: NCDN was set to Other