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Prepair 1000+

Gene: SGSH

Green List (high evidence)
SGSH (N-sulfoglucosamine sulfohydrolase)
EnsemblGeneIds (GRCh38): ENSG00000181523
EnsemblGeneIds (GRCh37): ENSG00000181523
OMIM: 605270, Gene2Phenotype
SGSH is in 15 panels

1 review

Andrew Coventry (Victorian Clinical Genetics Services)

Green List (high evidence)

Sanfilippo IIIA is characterised by severe central nervous system degeneration, but mild somatic disease. Onset of clinical features usually occurs between 2 and 6 years; severe neurologic degeneration occurs in most patients between 6 and 10 years of age, and death occurs typically during the second or third decade of life. Well established gene-disease association, more than 100 families reported.
Created: 9 Dec 2024, 1:33 a.m. | Last Modified: 9 Dec 2024, 1:33 a.m.
Panel Version: 1.633

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mucopolysaccharidosis type IIIA (Sanfilippo A), MIM# 252900; MONDO:0009655

Publications

Created: 9 Dec 2024, 1:33 a.m.
Last Modified: 9 Dec 2024, 1:33 a.m.
Panel version: 1.633

History Filter Activity

12 Dec 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sgsh has been classified as Green List (High Evidence).

12 Dec 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SGSH were changed from Mucopolysaccharidisis type IIIA (Sanfilippo A), 252900 (3) to Mucopolysaccharidisis type IIIA (Sanfilippo A), MIM#252900

12 Dec 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SGSH were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Mucopolysaccharidisis type IIIA (Sanfilippo A), 252900 (3) for gene: SGSH

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SGSH was added gene: SGSH was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SGSH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SGSH were set to Mucopolysaccharidisis type IIIA (Sanfilippo A), 252900 (3)