PanelApp
  1. Genes and Genomic Entities
  2. HYAL1

HYAL1

hyaluronoglucosaminidase 1
OMIM: 607071, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Red HYAL1 in Macrocephaly_Megalencephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.151

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Mucopolysaccharidosis type IX, MIM# 601492
  • MONDO:0011093

Amber HYAL1 in Mendeliome


Version 1.3512

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Mucopolysaccharidosis type IX, MIM# 601492
  • MONDO:0011093

Amber HYAL1 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 Amber
    • Victorian Clinical Genetics Services
    Phenotypes
    • Mucopolysaccharidosis type IX, MIM# 601492
    • MONDO:0011093

    Red HYAL1 in Fetal anomalies


    Version 1.465

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Genomics England PanelApp
    Phenotypes
    • Mucopolysaccharidosis type IX, MIM# 601492
    • MONDO:0011093

    Red HYAL1 in Prepair 1000+


    Level 2: Screening
    Version 2.14

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Mucopolysaccharidosis type IX (MIM#601492)