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Mucopolysaccharidosis type IIIA
Gene: SGSH
SGSH (N-sulfoglucosamine sulfohydrolase)
EnsemblGeneIds (GRCh38): ENSG00000181523
EnsemblGeneIds (GRCh37): ENSG00000181523
OMIM: 605270, Gene2Phenotype
SGSH is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000181523
EnsemblGeneIds (GRCh37): ENSG00000181523
OMIM: 605270, Gene2Phenotype
SGSH is in 14 panels
1 review
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #252900) and the OMIM record was last accessed on 20 December 2025.Created: 20 Dec 2025, 8:57 p.m. | Last Modified: 20 Dec 2025, 8:57 p.m.
Panel Version: 1.2
SGSH has been added to the panel for R291 Mucopolysaccharidosis type IIIA with a green rating as agreed with the NHS Genomic Medicine Service.Created: 30 Jun 2023, 2:42 p.m. | Last Modified: 30 Jun 2023, 2:42 p.m.
Panel Version: 0.2
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Mucopolysaccharidosis type IIIA (Sanfilippo A), OMIM:252900
- mucopolysaccharidosis type 3A, MONDO:0009655
- OMIM
- 605270
- Clinvar variants
- Variants in SGSH
- Penetrance
- None
- Panels with this gene
-
- Early onset or syndromic epilepsy
- DDG2P
- Paediatric or syndromic cardiomyopathy
- Mucopolysaccharidosis type IIIA
- Mucopolysaccharideosis, Gaucher, Fabry
- Intellectual disability
- Hyperammonaemia
- Fetal anomalies
- Undiagnosed metabolic disorders
- Skeletal dysplasia
- Lysosomal storage disorder
- Childhood onset dystonia, chorea or related movement disorder
- Retinal disorders
- Likely inborn error of metabolism
History Filter Activity
20 Dec 2025, Gel status: 3
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: SGSH were changed from to Mucopolysaccharidosis type IIIA (Sanfilippo A), OMIM:252900; mucopolysaccharidosis type 3A, MONDO:0009655
30 Jun 2023, Gel status: 3
Created, Added New Source, Set mode of inheritance
Achchuthan Shanmugasundram (Genomics England Curator)gene: SGSH was added gene: SGSH was added to Mucopolysaccharidosis type IIIA. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: SGSH was set to BIALLELIC, autosomal or pseudoautosomal