Lysosomal storage disorder

Gene: NAGLU

Green List (high evidence)

NAGLU (N-acetyl-alpha-glucosaminidase)
EnsemblGeneIds (GRCh38): ENSG00000108784
EnsemblGeneIds (GRCh37): ENSG00000108784
OMIM: 609701, Gene2Phenotype
NAGLU is in 20 panels

2 reviews

Emma Ashton (Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Variants in this GENE are reported as part of current diagnostic practice

Carol Hardy (West Midlands Regional Genetics Laboratory)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mucopolysaccharidosis type IIIB (Sanfilippo B) 252920

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

16 Mar 2021, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: NAGLU were changed from Mucopolysaccharidosis type IIIB (Sanfilippo B) 252920 to Mucopolysaccharidosis type IIIB (Sanfilippo B) OMIM:252920; Sanfilippo syndrome type B MONDO:0009656

13 Feb 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

gene: NAGLU was added gene: NAGLU 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: NAGLU was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NAGLU were set to Mucopolysaccharidosis type IIIB (Sanfilippo B) 252920