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  3. NRCAM
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Fetal anomalies

Gene: NRCAM

Amber List (moderate evidence)
NRCAM (neuronal cell adhesion molecule)
EnsemblGeneIds (GRCh38): ENSG00000091129
EnsemblGeneIds (GRCh37): ENSG00000091129
OMIM: 601581, Gene2Phenotype
NRCAM is in 5 panels

2 reviews

Ida Ertmanska (Genomics England Curator)

This gene and phenotype were reviewed during meetings in July and August 2026. The meetings included representatives of the North Thames and Central and South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Louise Carr (North Thames GLH), Sarah Graham & Elizabeth Young (Central & South GLH), and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Sunayna Best, Soo-Mi Park & Tessa Homfray (R21 Clinical Oversight Group).
Created: 29 Oct 2026, 4:13 p.m. | Last Modified: 29 Oct 2026, 4:13 p.m.
Panel Version: 8.26
Created: 29 Oct 2026, 4:13 p.m.
Last Modified: 29 Oct 2026, 4:13 p.m.
Panel version: 8.26

Sunayna Best (Leeds Teaching Hospitals NHS Trust)

Green List (high evidence)

Kurolap et al, 2022: 10 individuals from 8 families. Phenotype: developmental delay/intellectual disability, hypotonia, peripheral neuropathy, and/or spasticity. Perinatal findings: polyhydramnios in 2, IUGR in 1. Neuro findings: abnormal brain imaging in 6/10. Range features from hydrocephalus, thin corpus callosum, PVL, heterotopia, delayed myelination, arachnoid cyst. Other features not easily seen on scans (mild skeletal features e.g. CDH, pes cavus, coxa valga, scoliosis) eye features, facial dysmorphism, DD. Zebrafish supporting functional studies. Seems appropriate given number with structural brain anomalies and some with IUGR to include.
Created: 29 Oct 2026, 3:51 p.m. | Last Modified: 29 Oct 2026, 3:51 p.m.
Panel Version: 8.25

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder with neuromuscular and skeletal abnormalities, OMIM:619833

Publications

Created: 29 Oct 2026, 3:51 p.m.
Last Modified: 29 Oct 2026, 3:51 p.m.
Panel version: 8.25

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Amber
Phenotypes
  • Neurodevelopmental disorder with neuromuscular and skeletal abnormalities, OMIM:619833
OMIM
601581
Clinvar variants
Variants in NRCAM
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Oct 2026, Gel status: 2

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

Ida Ertmanska (Genomics England Curator)

gene: NRCAM was added gene: NRCAM was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: NRCAM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NRCAM were set to 35108495 Phenotypes for gene: NRCAM were set to Neurodevelopmental disorder with neuromuscular and skeletal abnormalities, OMIM:619833