Ataxia and cerebellar anomalies - narrow panel
Gene: NEU1EnsemblGeneIds (GRCh38): ENSG00000204386
EnsemblGeneIds (GRCh37): ENSG00000204386
OMIM: 608272, Gene2Phenotype
NEU1 is in 15 panels
2 reviews
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 Amber
- Phenotypes
-
- Sialidosis, type I, OMIM:256550
- Sialidosis, type II, OMIM:256550
- Ataxia
- Myoclonus
- Tags
- OMIM
- 608272
- Clinvar variants
- Variants in NEU1
- Penetrance
- None
- Publications
- Panels with this gene
-
- DDG2P
- Fetal anomalies
- Mucopolysaccharideosis, Gaucher, Fabry
- Hyperammonaemia
- Fetal hydrops
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Ataxia and cerebellar anomalies - narrow panel
- Monogenic hearing loss
- Skeletal dysplasia
- Proteinuric renal disease
- Undiagnosed metabolic disorders
- Lysosomal storage disorder
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
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