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BabyScreen+ newborn screening

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Created: 6 Oct 2022, 2:23 a.m.
Last Modified: 6 Oct 2022, 2:23 a.m.
Panel version: 0.415

David Amor (Murdoch Children's Research Institute)

Green List (high evidence)

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

Severity: moderate to severe

Age of onset: infant to childhood

Non-molecular confirmatory testing: yes, serum or plasma N-acetyl-alpha-D-glucosaminidase enzyme activity

Treatment: Tralesinidase alfa (BMN 250) enzyme replacement
Created: 4 Oct 2022, 9:11 p.m. | Last Modified: 4 Oct 2022, 9:11 p.m.
Panel Version: 0.274

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mucopolysaccharidosis type IIIB

Created: 4 Oct 2022, 9:11 p.m.
Last Modified: 4 Oct 2022, 9:11 p.m.
Panel version: 0.274

History Filter Activity

29 Dec 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag metabolic tag was added to gene: NAGLU.

6 Oct 2022, 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).

6 Oct 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

6 Oct 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: NAGLU.

18 Sep 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 gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: NAGLU was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NAGLU were set to Sanfilippo syndrome type B