Lysosomal storage disorder
Gene: SGSH

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

2 reviews

Emma Ashton (Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Created: 13 Feb 2019, 1:33 p.m.

Panel version: 0.3

Carol Hardy (West Midlands Regional Genetics Laboratory)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mucopolysaccharidosis type IIIA (Sanfilippo A) 252900

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

Created: 13 Feb 2019, 1:33 p.m.

Panel version: 0.3

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
Wessex and West Midlands GLH
Expert Review Green
North London GLH

Phenotypes

Mucopolysaccharidosis type IIIA (Sanfilippo A) OMIM:252900
Sanfilippo syndrome type A MONDO:0009655

OMIM

605270

Clinvar variants

Variants in SGSH

Penetrance

None

Panels with this gene

History Filter Activity

16 Mar 2021, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: SGSH were changed from Mucopolysaccharidosis type IIIA (Sanfilippo A) 252900 to Mucopolysaccharidosis type IIIA (Sanfilippo A) OMIM:252900; Sanfilippo syndrome type A MONDO:0009655

13 Feb 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

gene: SGSH was added gene: SGSH was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS Mode of inheritance for gene: SGSH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SGSH were set to Mucopolysaccharidosis type IIIA (Sanfilippo A) 252900

Lysosomal storage disorder Gene: SGSH