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  2. Likely inborn error of metabolism
  3. NEU1
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Likely inborn error of metabolism

Gene: NEU1

Green List (high evidence)
NEU1 (neuraminidase 1)
EnsemblGeneIds (GRCh38): ENSG00000204386
EnsemblGeneIds (GRCh37): ENSG00000204386
OMIM: 608272, Gene2Phenotype
NEU1 is in 15 panels

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History Filter Activity

1 May 2025, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: NEU1 were changed from Sialidosis type II; Sialidosis, type I; Sialidosis (Oligosaccharidoses); Mucolipidosis, Type I; Sialidosis to Sialidosis, type I, OMIM:256550; Sialidosis, type II, OMIM:256550; Mucolipidosis, Type I

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to NEU1. Source London North GLH was added to NEU1.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: NEU1 was added gene: NEU1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: NEU1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NEU1 were set to 27604308 Phenotypes for gene: NEU1 were set to Sialidosis type II; Sialidosis, type I; Sialidosis (Oligosaccharidoses); Mucolipidosis, Type I; Sialidosis