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Intellectual disability

Gene: NRDC

Amber List (moderate evidence)
NRDC (nardilysin convertase)
EnsemblGeneIds (GRCh38): ENSG00000078618
EnsemblGeneIds (GRCh37): ENSG00000078618
OMIM: 602651, Gene2Phenotype
NRDC is in 3 panels

1 review

Ida Ertmanska (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There are more than 3 individuals reported with biallelic NRDC variants and syndromic intellectual disability. Hence, this gene should be promoted to Green at the next update.
Created: 9 Mar 2026, 3:57 p.m. | Last Modified: 9 Mar 2026, 4:58 p.m.
Panel Version: 9.293
PMID: 41734767 Pehlivan et al., 2026
Report of 14 individuals from nine unrelated families carrying homozygous NRDC pathogenic variants (some reported previously). Common clinical features include severe to profound developmental delay/intellectual disability (12/12), microcephaly (13/13), prematurity (5/13), lethality in the first 3 years of life (9/14), seizures (7/11), joint contractures (4/8), eye/visual abnormalities (5/7 - 3 with optic atrophy, 1 with nystagmus, and 1 case of visual inattentiveness), and abnormal brain imaging studies ranging from diffuse atrophy to lissencephaly (8/11). The identified variants include two splice, three frameshift, and three missense variants.

NRDC is not yet associated with a phenotype in OMIM (accessed 9th Mar 2026).
Sources: Literature
Created: 9 Mar 2026, 3:56 p.m. | Last Modified: 9 Mar 2026, 3:56 p.m.
Panel Version: 9.291

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Created: 9 Mar 2026, 3:56 p.m.
Last Modified: 9 Mar 2026, 4:58 p.m.
Panel version: 9.291

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • neurodevelopmental disorder, MONDO:0700092
Tags
Q1_26_promote_green
OMIM
602651
Clinvar variants
Variants in NRDC
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Mar 2026, Gel status: 2

Set Phenotypes

Ida Ertmanska (Genomics England Curator)

Phenotypes for gene: NRDC were changed from to neurodevelopmental disorder, MONDO:0700092

9 Mar 2026, Gel status: 2

Entity classified by Genomics England curator

Ida Ertmanska (Genomics England Curator)

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

9 Mar 2026, Gel status: 1

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

Ida Ertmanska (Genomics England Curator)

gene: NRDC was added gene: NRDC was added to Intellectual disability. Sources: Literature Q1_26_promote_green tags were added to gene: NRDC. Mode of inheritance for gene: NRDC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NRDC were set to 41734767 Review for gene: NRDC was set to GREEN