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Fetal anomalies

Gene: NAGLU

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

3 reviews

Arina Puzriakova (Genomics England Curator)

I don't know

Amber rating has been maintained, inline with the recent review by the R21 Clinical Oversight Group.
Created: 5 Sep 2025, 4:41 p.m. | Last Modified: 5 Sep 2025, 4:41 p.m.
Panel Version: 6.29
Created: 5 Sep 2025, 4:41 p.m.
Last Modified: 5 Sep 2025, 4:41 p.m.
Panel version: 6.29

Sarah Graham (West Midlands Regional Genetics Laboratory, Birmingham Women's and Children’s NHS Foundation Trust)

I don't know

This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Created: 5 Sep 2025, 4:31 p.m. | Last Modified: 5 Sep 2025, 4:31 p.m.
Panel Version: 6.28
Sanfilippo syndrome B (Mucopolysaccharidosis type IIIB) - well-described autosomal recessive lysosomal storage disorder. Progressive disorder with onset in early childhood. Diagnosed in one fetus with isolated growth restriction (40066675); stature in affected children is often normal or just below normal so unclear if this is a causal finding. Among other MPSIII genes, GNS is green and HGSNAT and SGSH are amber. No clear evidence of prenatal presentation.
Created: 5 Sep 2025, 2:55 p.m. | Last Modified: 5 Sep 2025, 2:55 p.m.
Panel Version: 6.24

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mucopolysaccharidosis type IIIB (Sanfilippo B)

Publications

Created: 5 Sep 2025, 2:55 p.m.
Last Modified: 5 Sep 2025, 2:55 p.m.
Panel version: 6.28

Rebecca Foulger (Genomics England curator)

I don't know

This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team) and Kate Tatton-Brown. Outcome of review: Hydrops is not a typical feature in MPS type III, and therefore Amber rating is appropriate.
Created: 25 Jul 2019, 8:04 a.m. | Last Modified: 25 Jul 2019, 8:04 a.m.
Panel Version: 0.311
DDG2P rating in original PAGE list: Confirmed for MUCOPOLYSACCHARIDOSIS TYPE 3B
Created: 11 Dec 2018, 9:05 a.m.
Created: 11 Dec 2018, 9:05 a.m.

Panel version: 0.311

History Filter Activity

5 Sep 2025, Gel status: 2

Set Phenotypes, Set publications

Arina Puzriakova (Genomics England Curator)

Added phenotypes Mucopolysaccharidosis type IIIB (Sanfilippo B) for gene: NAGLU Publications for gene: NAGLU were updated from to 40066675

25 Jul 2019, Gel status: 2

Added New Source, Status Update

Rebecca Foulger (Genomics England curator)

Source Expert Review Amber was added to NAGLU. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: NAGLU was added gene: NAGLU was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: NAGLU was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NAGLU were set to MUCOPOLYSACCHARIDOSIS TYPE 3B