1. Panels
  2. Intellectual disability
  3. NAV3
Genes in panel
Prev Next
Regions in panel
Prev Next

Intellectual disability

Gene: NAV3

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

2 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Created: 12 Mar 2026, 1:33 p.m. | Last Modified: 12 Mar 2026, 1:33 p.m.
Panel Version: 9.299
Created: 12 Mar 2026, 1:33 p.m.
Last Modified: 12 Mar 2026, 1:33 p.m.
Panel version: 9.299

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 Green
  • NHS GMS
  • Literature
Phenotypes
  • recessive neurodevelopmental disorder
OMIM
611629
Clinvar variants
Variants in NAV3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Mar 2026, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q1_25_ promote_green was removed from gene: NAV3.

12 Mar 2026, Gel status: 3

Added New Source, Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source NHS GMS was added to NAV3. Source Expert Review Green was added to NAV3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

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