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Prepair 1000+

Gene: NAGLU

Green List (high evidence)
NAGLU (N-acetyl-alpha-glucosaminidase)
EnsemblGeneIds (GRCh38): ENSG00000108784
EnsemblGeneIds (GRCh37): ENSG00000108784
OMIM: 609701, Gene2Phenotype
NAGLU is in 16 panels

1 review

Andrew Coventry (Victorian Clinical Genetics Services)

Green List (high evidence)

Gene-disease association is strong. Sanfilippo syndrome B is an autosomal recessive lysosomal storage disorder characterized by the accumulation of heparan sulfate. Clinically, patients have progressive neurodegeneration, behavioural problems, mild skeletal changes, and shortened life span. The clinical severity ranges from mild to severe. Animal model present, functional studies also available.

? AD associated condition with two families reported with mono-allelic variants and CMT. (Charcot-Marie-Tooth disease, axonal, type 2V MIM#616491)
Created: 2 Dec 2024, 3:37 a.m. | Last Modified: 2 Dec 2024, 3:37 a.m.
Panel Version: 1.633

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mucopolysaccharidosis type IIIB (Sanfilippo B) MIM#252920

Publications

Created: 2 Dec 2024, 3:37 a.m.
Last Modified: 2 Dec 2024, 3:37 a.m.
Panel version: 1.633

History Filter Activity

12 Dec 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: naglu has been classified as Green List (High Evidence).

12 Dec 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NAGLU were changed from Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920 (3) to Mucopolysaccharidosis type IIIB (Sanfilippo B) MIM#252920

12 Dec 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NAGLU were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920 (3) for gene: NAGLU

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NAGLU was added gene: NAGLU was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green 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 (3)