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Intellectual disability

Gene: NCDN

Amber List (moderate evidence)

NCDN (neurochondrin)
EnsemblGeneIds (GRCh38): ENSG00000020129
EnsemblGeneIds (GRCh37): ENSG00000020129
OMIM: 608458, Gene2Phenotype
NCDN is in 2 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark. Sufficient evidence to rate this gene as Green with 'monoallelic' MOI at next GMS panel update.

- PMID: 33711248 (2021) - Six affected individuals (3 sibs with homozygous missense, and 3 unrelated patients with different de novo missense variants) with variable degrees of DD, ID, and seizures. Severity of ID in individuals with heterozygous variants is severe, moderate, and mild (but also learning disabilities), respectively. ID in the 3 sibs was determined as mild. Supportive functional data included.

NCDN is not yet associated with any phenotype in OMIM (last edited on 08/08/2012) but in Gene2Phenotype monoallelic disease has a 'probable' confidence rating while biallelic variants have a 'possible' disease confidence rating.
Created: 30 Apr 2021, 10:44 a.m. | Last Modified: 30 Apr 2021, 10:44 a.m.
Panel Version: 3.1048
Comment on mode of inheritance: Setting MOI to 'Monoallelic' as only one biallelic case reported to date, and patients with biallelic variants would still be picked up by the Genomics England pipeline.
Created: 30 Apr 2021, 10:37 a.m. | Last Modified: 30 Apr 2021, 10:37 a.m.
Panel Version: 3.1047

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Four families reported, all with de novo missense variants except for 1 consanguineous family where 3 affecteds were homozygous and carrier parents unaffected. ID ranged from mild to severe, several had seizures. Green for mono-allelic disease, Red for bi-allelic.
Sources: Literature
Created: 17 Apr 2021, 8:10 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Intellectual disability; epilepsy

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • Intellectual disability
  • epilepsy
Tags
Q2_21_rating
OMIM
608458
Clinvar variants
Variants in NCDN
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Apr 2021, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: NCDN.

30 Apr 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: ncdn has been classified as Amber List (Moderate Evidence).

30 Apr 2021, Gel status: 0

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: NCDN was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

17 Apr 2021, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: NCDN was added gene: NCDN was added to Intellectual disability. 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 Intellectual disability; epilepsy Review for gene: NCDN was set to GREEN