SGSH

N-sulfoglucosamine sulfohydrolase
OMIM: 605270, Gene2Phenotype

14 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 14 panels
Green SGSH in Mucopolysaccharideosis, Gaucher, Fabry Level 3: Lysosomal storage disorders Level 2: Metabolic disorders Version 1.5	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Phenotypes Mucopolysaccharidosis, Type III Mucopolysaccharidosis Type IIIA Mucopolysaccharidosis Type III MUCOPOLYSACCHARIDOSIS TYPE 3A
Red SGSH in Hyperammonaemia Level 3: Urea Cycle disorders Level 2: Metabolic disorders Version 1.22	review	Not set	Sources Emory Genetics Laboratory
Green SGSH in Lysosomal storage disorder Level 2: Metabolic Version 3.5 Latest signed off version: v3.0 (22 Mar 2023)	review	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
Green SGSH in Skeletal dysplasia Level 2: Musculoskeletal Version 8.38 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Expert list Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Phenotypes Mucopolysaccharidisis type IIIA (Sanfilippo A) 252900
Green SGSH in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.643	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes MPS IIIA, Sanfilippo A disease (Mucopolysaccharidoses) Mucopolysaccharidosis, Type III Mucopolysaccharidosis Type IIIA Mucopolysaccharidosis Type III MUCOPOLYSACCHARIDOSIS TYPE 3A
Green SGSH in Likely inborn error of metabolism Level 2: Metabolic Version 8.98 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Mucopolysaccharidosis Type III Mucopolysaccharidosis, Type III Mucopolysaccharidosis Type IIIA MPS IIIA, Sanfilippo A disease (Mucopolysaccharidoses) MUCOPOLYSACCHARIDOSIS TYPE 3A
Amber SGSH in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.157 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber PAGE DD-Gene2Phenotype Phenotypes MUCOPOLYSACCHARIDOSIS TYPE 3A
Green SGSH in DDG2P Version 6.426 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MUCOPOLYSACCHARIDOSIS TYPE 3A 252900
Green SGSH in Early onset or syndromic epilepsy Level 2: Neurology Version 8.147 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Literature Phenotypes Mucopolysaccharidosis type IIIA (Sanfilippo A), 252900 seizures
Green SGSH in Intellectual disability Level 2: Developmental disorders Version 9.304 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes MUCOPOLYSACCHARIDOSIS TYPE 3A (MPS3A)
Green SGSH in Retinal disorders Level 2: Ophthalmology Version 8.99 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes Retinal dystrophy, HP:0000556 retinitis pigmentosa, MONDO:0019200
Amber SGSH in Paediatric or syndromic cardiomyopathy Level 2: Cardiology Version 7.98 Latest signed off version: v7.0 (30 Apr 2025) Component of the following Super Panels: Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS MetBioNet MetBioNet Phenotypes Mucopolysaccharidosis, Type III MUCOPOLYSACCHARIDOSIS TYPE 3A MPS IIIA, Sanfilippo A disease (Mucopolysaccharidoses) Mucopolysaccharidosis Type III Mucopolysaccharidosis Type IIIA
Red SGSH in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.17 Latest signed off version: v7.0 (30 Apr 2025)	review	Not set	Sources Expert Review Red London North GLH
Green SGSH in Mucopolysaccharidosis type IIIA Level 2: Metabolic Version 1.3 Latest signed off version: v1.0 (14 Sep 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mucopolysaccharidosis type IIIA (Sanfilippo A), OMIM:252900 mucopolysaccharidosis type 3A, MONDO:0009655