Ataxia and cerebellar anomalies - narrow panel
Gene: NEU1EnsemblGeneIds (GRCh38): ENSG00000204386
EnsemblGeneIds (GRCh37): ENSG00000204386
OMIM: 608272, Gene2Phenotype
NEU1 is in 15 panels
3 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.Created: 11 Mar 2026, 1:41 p.m. | Last Modified: 11 Mar 2026, 1:41 p.m.
Panel Version: 8.67
Arina Puzriakova (Genomics England Curator)
Comment on list classification: Biallelic variants in the NEU1 gene are associated with Sialidosis (OMIM: 256550). Both Sialidosis Type I (milder, late-onset) and Sialidosis Type II (more severe, early-onset) can present with ataxia as part of a systemic neurological condition.
Overall there are sufficient unrelated cases to warrant inclusion on this panel.Created: 1 May 2025, 9:26 a.m. | Last Modified: 1 May 2025, 9:26 a.m.
Panel Version: 8.3
Lauren Turton (Sheffield Diagnostics Genetics Service)
NEU1-related sialidosis type I is a milder form of the disorder, characterised by visual defects, macular cherry-red spot, myoclonus, ataxia, and seizures. Onset can be variable from childhood to adulthood. Disorder has been well characterised for many years, with several unrelated patients reported.
Sources: NHS GMSCreated: 14 Apr 2025, 3:05 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ataxia; myoclonus
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Sialidosis, type I, OMIM:256550
- Sialidosis, type II, OMIM:256550
- Ataxia
- Myoclonus
- OMIM
- 608272
- Clinvar variants
- Variants in NEU1
- Penetrance
- None
- Publications
- Panels with this gene
-
- DDG2P
- Undiagnosed metabolic disorders
- Fetal anomalies
- Childhood onset dystonia, chorea or related movement disorder
- Skeletal dysplasia
- Mucopolysaccharideosis, Gaucher, Fabry
- Hyperammonaemia
- Fetal hydrops
- Likely inborn error of metabolism
- Proteinuric renal disease
- Intellectual disability
- Monogenic hearing loss
- Hereditary ataxia with onset in adulthood
- Lysosomal storage disorder
- Ataxia and cerebellar anomalies - narrow panel
History Filter Activity
Removed Tag, Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q2_25_ promote_green was removed from gene: NEU1. Tag Q2_25_ NHS_review was removed from gene: NEU1.
Added New Source, Status Update
Achchuthan Shanmugasundram (Genomics England Curator)Source Expert Review Green was added to NEU1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: neu1 has been classified as Amber List (Moderate Evidence).
Added Tag, Added Tag
Arina Puzriakova (Genomics England Curator)Tag Q2_25_ promote_green tag was added to gene: NEU1. Tag Q2_25_ NHS_review tag was added to gene: NEU1.
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: NEU1 were changed from Ataxia; myoclonus to Sialidosis, type I, OMIM:256550; Sialidosis, type II, OMIM:256550; Ataxia; Myoclonus
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Lauren Turton (Sheffield Diagnostics Genetics Service)gene: NEU1 was added gene: NEU1 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: NHS GMS Mode of inheritance for gene: NEU1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NEU1 were set to 10944856; 11063730; 32752208; 31371146; 30023283 Phenotypes for gene: NEU1 were set to Ataxia; myoclonus Review for gene: NEU1 was set to GREEN gene: NEU1 was marked as current diagnostic