Lysosomal Storage Disorder
Gene: SGSH
Sanfilippo IIIA is characterised by severe central nervous system degeneration, but only 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: 14 Apr 2021, 4:33 a.m. | Last Modified: 14 Apr 2021, 4:33 a.m.
Panel Version: 0.183
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mucopolysaccharidosis type IIIA (Sanfilippo A), MIM# 252900
Publications
Gene: sgsh has been classified as Green List (High Evidence).
Phenotypes for gene: SGSH were changed from to Mucopolysaccharidosis type IIIA (Sanfilippo A), MIM# 252900; MONDO:0009655
Publications for gene: SGSH were set to
Mode of inheritance for gene: SGSH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
gene: SGSH was added gene: SGSH was added to Storage Disorder_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SGSH was set to Unknown