Arthrogryposis
Gene: NRDC
NRDC (nardilysin convertase)
EnsemblGeneIds (GRCh38): ENSG00000078618
EnsemblGeneIds (GRCh37): ENSG00000078618
OMIM: 602651, Gene2Phenotype
NRDC is in 3 panels
EnsemblGeneIds (GRCh38): ENSG00000078618
EnsemblGeneIds (GRCh37): ENSG00000078618
OMIM: 602651, Gene2Phenotype
NRDC is in 3 panels
1 review
Ida Ertmanska (Genomics England Curator)
Comment on list classification: There are more than 3 individuals reported with biallelic NRDC variants and joint contractures. Hence, this gene should be promoted to Green at the next update.Created: 9 Mar 2026, 4:59 p.m. | Last Modified: 9 Mar 2026, 4:59 p.m.
Panel Version: 9.26
PMID: 41734767 Pehlivan et al., 2026
Report of 14 individuals from nine unrelated families carrying homozygous NRDC pathogenic variants. 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: LiteratureCreated: 9 Mar 2026, 3:56 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Literature
- Phenotypes
-
- neurodevelopmental disorder, MONDO:0700092
- Tags
- 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 Arthrogryposis. 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