Fetal anomalies
Gene: NAGLU

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Generally post-natal onset.
Created: 24 Jan 2022, 5:53 a.m. | Last Modified: 24 Jan 2022, 5:53 a.m.

Panel Version: 0.2712

Phenotypes
Mucopolysaccharidosis type IIIB (Sanfilippo B), MIM# 252920

Created: 24 Jan 2022, 5:53 a.m.
Last Modified: 24 Jan 2022, 5:53 a.m.
Panel version: 0.2712

Ain Roesley (Victorian Clinical Genetics Services)

I don't know

The association between bi-allelic variants and Sanfilippo B is well established. The disorder is characterized by the accumulation of heparan sulfate, resulting in progressive neurodegeneration, behavioural problems, mild skeletal changes, and shortened life span. The clinical severity ranges from mild to severe.
Created: 24 Jan 2022, 12:38 a.m. | Last Modified: 24 Jan 2022, 12:38 a.m.

Panel Version: 0.2665

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mucopolysaccharidosis type IIIB (Sanfilippo B), MIM# 252920

Publications

8650226

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

Created: 24 Jan 2022, 12:38 a.m.
Last Modified: 24 Jan 2022, 12:38 a.m.
Panel version: 0.2665

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Genomics England PanelApp

Phenotypes

Mucopolysaccharidosis type IIIB (Sanfilippo B), MIM# 252920

OMIM

609701

Clinvar variants

Variants in NAGLU

Penetrance

None

Publications

8650226

Panels with this gene