Lysosomal storage disorder
Gene: NEU1EnsemblGeneIds (GRCh38): ENSG00000204386
EnsemblGeneIds (GRCh37): ENSG00000204386
OMIM: 608272, Gene2Phenotype
NEU1 is in 15 panels
2 reviews
Emma Ashton (Great Ormond Street Hospital)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Carol Hardy (West Midlands Regional Genetics Laboratory)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Sialidosis, type I 256550; Sialidosis, type II 256550
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Wessex and West Midlands GLH
- Expert Review Green
- North London GLH
- Phenotypes
-
- Sialidosis, type II OMIM:256550
- Sialidosis, type I OMIM:256550
- sialidosis type 2 MONDO:0009738
- OMIM
- 608272
- Clinvar variants
- Variants in NEU1
- Penetrance
- None
- Panels with this gene
-
- DDG2P
- 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
- Fetal anomalies
- Proteinuric renal disease
- Undiagnosed metabolic disorders
- Lysosomal storage disorder
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: NEU1 were changed from Sialidosis, type II 256550; Sialidosis, type I 256550 to Sialidosis, type II OMIM:256550; Sialidosis, type I OMIM:256550; sialidosis type 2 MONDO:0009738
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: NEU1 was added gene: NEU1 was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS Mode of inheritance for gene: NEU1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NEU1 were set to Sialidosis, type II 256550; Sialidosis, type I 256550