This Panel is marked as Deleted
GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: NEU1
NEU1 (neuraminidase 1)
EnsemblGeneIds (GRCh38): ENSG00000204386
EnsemblGeneIds (GRCh37): ENSG00000204386
OMIM: 608272, Gene2Phenotype
NEU1 is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000204386
EnsemblGeneIds (GRCh37): ENSG00000204386
OMIM: 608272, Gene2Phenotype
NEU1 is in 15 panels
1 review
Tracy Lester (Genetics laboratory, Oxford UK)
Lysosomal storage diseases with skeletal involvement (dysostosis multiplex gp of SD) - >3 cases; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:52 a.m.
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
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Sialidosis, type II 256550
- Sialidosis, type I 256550
- OMIM
- 608272
- Clinvar variants
- Variants in NEU1
- Penetrance
- None
- Panels with this gene
-
- Likely inborn error of metabolism
- Monogenic hearing loss
- Undiagnosed metabolic disorders
- Mucopolysaccharideosis, Gaucher, Fabry
- Hyperammonaemia
- Skeletal dysplasia
- Ataxia and cerebellar anomalies - narrow panel
- Fetal hydrops
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary ataxia with onset in adulthood
- Intellectual disability
- Proteinuric renal disease
- Fetal anomalies
- DDG2P
- Lysosomal storage disorder
History Filter Activity
6 Mar 2019, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: NEU1 was added gene: NEU1 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green 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