Hyperammonaemia
Gene: NAGLU
NAGLU (N-acetyl-alpha-glucosaminidase)
EnsemblGeneIds (GRCh38): ENSG00000108784
EnsemblGeneIds (GRCh37): ENSG00000108784
OMIM: 609701, Gene2Phenotype
NAGLU is in 20 panels
EnsemblGeneIds (GRCh38): ENSG00000108784
EnsemblGeneIds (GRCh37): ENSG00000108784
OMIM: 609701, Gene2Phenotype
NAGLU is in 20 panels
2 reviews
Peter Clayton (UCL Institute of Child Health)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mucopolysaccharidosis type IIIB (Sanfilippo B)
Ellen McDonagh (Genomics England Curator)
Please note that phenotypes that already existed for this gene panel (viewed under Gene Summary) and Ensembl transcripts were accidently uploaded under Peter Clayton (UCL Institute of Child Health)'s review and were not suggested by him. We are working on a fix in PanelApp to correct this.Created: 5 Nov 2015, 5:19 p.m.
Details
- Sources
-
- Emory Genetics Laboratory
- OMIM
- 609701
- Clinvar variants
- Variants in NAGLU
- Penetrance
- Complete
- Panels with this gene
-
- Lysosomal storage disorder
- Intellectual disability
- Paediatric or syndromic cardiomyopathy
- Undiagnosed metabolic disorders
- Mucopolysaccharideosis, Gaucher, Fabry
- Mucopolysaccharidosis type IIIB
- Hyperammonaemia
- Hereditary ataxia
- Ataxia and cerebellar anomalies - childhood onset
- Skeletal dysplasia
- Likely inborn error of metabolism
- Dystonia, chorea or related movement disorder, childhood onset
- Hereditary neuropathy
- Hereditary neuropathy or pain disorder
- Pain syndromes
- Neurodegenerative disorders, adult onset
- DDG2P
- Hereditary ataxia, adult onset
- Fetal anomalies
- Paroxysmal central nervous system disorders
History Filter Activity
22 Nov 2016, Gel status: 1
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 on 22nd November 2016
5 May 2015, Gel status: 1
Added New Source
Eik Haraldsdottir (Genomics England)NAGLU was added to Hyperammonaemiapanel. Sources: Emory Genetics Laboratory