Mucopolysaccharideosis, Gaucher, Fabry

Gene: NEU1

Green List (high evidence)

NEU1 (neuraminidase 1)
EnsemblGeneIds (GRCh38): ENSG00000204386
EnsemblGeneIds (GRCh37): ENSG00000204386
OMIM: 608272, Gene2Phenotype
NEU1 is in 14 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted from red to green due to a green expert review, information on OMIM and is a confirmed gene on G2P for sialidosis. Mode of inheritance confirmed on G2P and OMIM.
Created: 29 Feb 2016, 6:28 p.m.

Helen Savage (Congenica Ltd)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Sialidosis type II

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Sialidosis
  • Sialidosis, type I
  • Sialidosis type II
  • Mucolipidosis, Type I
OMIM
608272
Clinvar variants
Variants in NEU1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

29 Feb 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for NEU1 were set to Sialidosis; Sialidosis, type I; Sialidosis type II; Mucolipidosis, Type I

29 Feb 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for NEU1 were set to PMID: 8985184; 11063730; 11829139; 14695530

29 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

3 Aug 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

NEU1 was added to Mucopolysaccharideosis, Gaucher, Fabrypanel. Sources: Illumina TruGenome Clinical Sequencing Services