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Genetic Epilepsy

Gene: NCDN

Green List (high evidence)

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Phenotypes
Neurodevelopmental disorder with infantile epileptic spasms (NEDIES), MIM#619373

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

4x families all missense and de novo except for 1 consag family where 3 affecteds were homozygous and carrier parents unaffected

ID ranged from mild to severe
3/4 probands had seizures
only 3 affecteds had MRI done, with 1 delayed myelination

in vitro studies were done
Sources: Literature
Created: 12 Apr 2021, 5:45 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
neurodevelopmental delay, intellectual disability, and epilepsy

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with infantile epileptic spasms (NEDIES), MIM#619373
OMIM
608458
Clinvar variants
Variants in NCDN
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

17 Jun 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NCDN were changed from neurodevelopmental delay, intellectual disability, and epilepsy to Neurodevelopmental disorder with infantile epileptic spasms (NEDIES), MIM#619373

12 Apr 2021, Gel status: 3

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

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

12 Apr 2021, Gel status: 3

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

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

12 Apr 2021, Gel status: 0

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

Ain Roesley (Victorian Clinical Genetics Services)

gene: NCDN was added gene: NCDN was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: NCDN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: NCDN were set to 33711248 Phenotypes for gene: NCDN were set to neurodevelopmental delay, intellectual disability, and epilepsy Penetrance for gene: NCDN were set to unknown Review for gene: NCDN was set to GREEN