Hereditary neuropathy or pain disorder
Gene: NARS

NARS (asparaginyl-tRNA synthetase)
EnsemblGeneIds (GRCh38): ENSG00000134440
EnsemblGeneIds (GRCh37): ENSG00000134440
OMIM: 108410, Gene2Phenotype
NARS is in 6 panels

3 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Created: 24 Feb 2025, 5:02 p.m. | Last Modified: 24 Feb 2025, 5:02 p.m.

Panel Version: 6.148

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Created: 24 Feb 2025, 5:02 p.m.
Last Modified: 24 Feb 2025, 5:02 p.m.
Panel version: 6.148

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The new gene name for NARS is NARS1.
Created: 24 Oct 2024, 9:27 a.m. | Last Modified: 24 Oct 2024, 9:27 a.m.

Panel Version: 5.74

Comment on list classification: There is sufficient evidence available for the promotion of this gene top green rating on the next GMS update. The MOI can be set as 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal" as there are at least three cases reported with both modes of inheritance.
Created: 24 Oct 2024, 9:26 a.m. | Last Modified: 24 Oct 2024, 9:26 a.m.

Panel Version: 5.74

PMID:32738225 reported a total of 24 patients from 13 unrelated families with biallelic variants in the NARS1 gene and 8 unrelated patients with de novo heterozygous variants in the NARS1 gene. They presented with microcephaly, neurodevelopmental delay, seizures, peripheral neuropathy, and ataxia. Neuropathy was present in four patients from three families with biallelic variants and three unrelated individuals with monoallelic variants. In addition, supportive functional data is also present.

This gene has been associated with relevant phenotypes in both OMIM (MIMs #619091 & #619092) and Gene2Phenotype (monoallelic condition with 'strong' rating and biallelic condition with 'definitive' rating on the DD panel). This gene is also present with green rating on the 'Hereditary Neuropathy - complex' panel of PanelApp Australia.
Created: 24 Oct 2024, 9:24 a.m. | Last Modified: 24 Oct 2024, 9:25 a.m.

Panel Version: 5.72

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities, autosomal recessive, OMIM:619091; Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities, autosomal dominant, OMIM:619092

Publications

Created: 24 Oct 2024, 9:24 a.m.
Last Modified: 24 Oct 2024, 9:25 a.m.
Panel version: 5.74

Alexander Rossor (UCL Institute of Neurology)

Green List (high evidence)

Sources: Expert list
Created: 19 Oct 2024, 10:53 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
developmental delay; seizures; peripheral neuropathy

Publications

32738225:

Created: 19 Oct 2024, 10:53 p.m.

Panel version: 5.19

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS

Phenotypes

Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities, autosomal recessive, OMIM:619091
Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities, autosomal dominant, OMIM:619092

Tags

new-gene-name

OMIM

108410

Clinvar variants

Variants in NARS

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

24 Feb 2025, Gel status: 3

Removed Tag, Removed Tag

Sarah Leigh (Genomics England Curator)

Tag Q3_24_promote_green was removed from gene: NARS. Tag Q3_24_NHS_review was removed from gene: NARS.

24 Feb 2025, Gel status: 3

Added New Source, Added New Source, Status Update

Sarah Leigh (Genomics England Curator)

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

24 Oct 2024, Gel status: 2