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Intellectual disability

Gene: NAV3

Amber List (moderate evidence)
NAV3 (neuron navigator 3)
EnsemblGeneIds (GRCh38): ENSG00000067798
EnsemblGeneIds (GRCh37): ENSG00000067798
OMIM: 611629, Gene2Phenotype
NAV3 is in 1 panel

1 review

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Comment on publications: PMID: 39708122 was identified by the Genomics England Applied Machine Learning (ML) team in a Biocuration-ML project for identifying new gene-disease associations using Natural Language Processing (NLP) and Generative AI techniques.
Created: 17 Mar 2025, 5:46 p.m. | Last Modified: 17 Mar 2025, 5:46 p.m.
Panel Version: 8.155
At least 11 NAV3 variants have been reported in 11 unrelated families with a neurodevelopmental disorder, with dysmorphism and other features (PMIDs: 38977784;39038237;39708122). The NAV3 variants were homozygous in the affected members of eight of these families, de novo heterozygous NAV3 variants were found in two families (PED4263 & MI01 in PMID: 38977784) and in one case the heterozygous NAV3 variant was inherited from the mother (FM1 in PMID: 38977784). A nav3 knock-zebrafish model resulted in severe morphological defects, microcephaly, impaired neuronal growth, and behavioral impairment, this phenotype was rescued with co-injection of WT NAV3 mRNA, but not pathogenic variant NAV3 mRNA (PMID: 38977784). Varying degrees of intellectual disability was evident in the patients carrying NAV3 variants (severe 2/11, moderate 2/11, mild 7/11)(PMIDs: 38977784;39038237;39708122).
Sources: Literature
Created: 17 Mar 2025, 5:09 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
recessive neurodevelopmental disorder

Publications

Created: 17 Mar 2025, 5:09 p.m.

Panel version: 8.153

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • recessive neurodevelopmental disorder
Tags
Q1_25_ promote_green
OMIM
611629
Clinvar variants
Variants in NAV3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Oct 2025, Gel status: 2

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q1_25_ expert_review was removed from gene: NAV3.

17 Mar 2025, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: NAV3 were set to 38977784; 39038237; 39708122

17 Mar 2025, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: nav3 has been classified as Amber List (Moderate Evidence).

17 Mar 2025, Gel status: 1

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

Sarah Leigh (Genomics England Curator)

gene: NAV3 was added gene: NAV3 was added to Intellectual disability. Sources: Literature Q1_25_ promote_green, Q1_25_ expert_review tags were added to gene: NAV3. Mode of inheritance for gene: NAV3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: NAV3 were set to 38977784; 39038237; 39708122 Phenotypes for gene: NAV3 were set to recessive neurodevelopmental disorder Review for gene: NAV3 was set to GREEN