Fetal anomalies
Gene: SGSH

SGSH (N-sulfoglucosamine sulfohydrolase)
EnsemblGeneIds (GRCh38): ENSG00000181523
EnsemblGeneIds (GRCh37): ENSG00000181523
OMIM: 605270, Gene2Phenotype
SGSH is in 14 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

This gene was reviewed by Anna de Burca (Genomics England Clinical Team) under the category of storage disorders. Outcome of review: Rate as Amber- no reports of presenting fetally.
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 3A
Created: 11 Dec 2018, 9:05 a.m.

Created: 11 Dec 2018, 9:05 a.m.

Panel version: 0.311

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Amber
PAGE DD-Gene2Phenotype

Phenotypes

MUCOPOLYSACCHARIDOSIS TYPE 3A

OMIM

605270

Clinvar variants

Variants in SGSH

Penetrance

None

Panels with this gene

History Filter Activity

25 Jul 2019, Gel status: 2

Added New Source, Status Update

Rebecca Foulger (Genomics England curator)

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

Fetal anomalies Gene: SGSH