HYAL1

hyaluronidase 1
OMIM: 607071, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Red HYAL1 in Macrocephaly_Megalencephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.0

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 2.0

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 2.0

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 2.0

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 3.0

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