PanelApp
  1. Genes and Genomic Entities
  2. SGSH

SGSH

N-sulfoglucosamine sulfohydrolase
OMIM: 605270, Gene2Phenotype

15 panels

Panel Reviews Mode of inheritance Details
15 panels

Green SGSH in Autism


Level 2: Neurology and neurodevelopmental disorders
Version 0.224

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green SGSH in Macrocephaly_Megalencephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.151

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green SGSH in Mendeliome


Version 1.3512

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mucopolysaccharidosis type IIIA (Sanfilippo A), MIM# 252900
  • MONDO:0009655

Green SGSH in Lysosomal Storage Disorder


Level 2: Metabolic conditions
Version 1.23

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Mucopolysaccharidosis type IIIA (Sanfilippo A), MIM# 252900
    • MONDO:0009655

    Green SGSH in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.267

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Mucopolysaccharidosis type IIIA (Sanfilippo A), 252900

    Green SGSH in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.594

    		0 reviews Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green SGSH in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.410

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Mucopolysaccharidosis type IIIA (Sanfilippo A), MIM# 252900
    • MONDO:0009655

    Green SGSH in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.346

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Illumina TruGenome Clinical Sequencing Services
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    • Expert Review Green
    • NHS GMS
    • Expert list
    • Emory Genetics Laboratory
    • Victorian Clinical Genetics Services
    Phenotypes
    • Mucopolysaccharidisis type IIIA (Sanfilippo A) 252900

    Green SGSH in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.110

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Mucopolysaccharidisis type IIIA (Sanfilippo A), 252900 (3)

    Amber SGSH in Cardiomyopathy_Paediatric


    Level 2: Cardiovascular disorders
    Version 0.207

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • MetBioNet
    • Expert Review Amber
    • NHS GMS
    Phenotypes
    • Mucopolysaccharidosis Type IIIA
    • Mucopolysaccharidosis Type III
    • MUCOPOLYSACCHARIDOSIS TYPE 3A
    • MPS IIIA, Sanfilippo A disease (Mucopolysaccharidoses)
    • Mucopolysaccharidosis, Type III

    Green SGSH in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Mucopolysaccharidisis type IIIA (Sanfilippo A)

    Red SGSH in Fetal anomalies


    Version 1.465

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Genomics England PanelApp
    • Genetic Health Queensland
    Phenotypes
    • Mucopolysaccharidosis type IIIA (Sanfilippo A), MIM# 252900
    • MONDO:0009655

    Green SGSH in Prepair 1000+


    Level 2: Screening
    Version 2.14

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Mucopolysaccharidisis type IIIA (Sanfilippo A), MIM#252900

    Amber SGSH in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • BabySeq Category A gene
    Phenotypes
    • Mucopolysaccharidosis type IIIA (Sanfilippo A), MIM# 252900
    Tags
    • clinical trial

    Green SGSH in Prepair 500+


    Level 2: Screening
    Version 2.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Mucopolysaccharidosis type IIIA (Sanfilippo A), MIM# 252900
    • MONDO:0009655