HYAL2

hyaluronoglucosaminidase 2
OMIM: 603551, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green HYAL2 in Familial non syndromic congenital heart disease

Level 3: Congenital heart disease
Level 2: Cardiovascular disorders
Version 1.86

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • cor triatriatum
  • congenital cardiac malformations
Tags
  • gene-checked
Green HYAL2 in DDG2P


Version 4.3
Latest signed off version: v4.0 (1 May 2024)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • HYAL2-related syndrome with cleft lip and palate and congenital cardiac anomalies
    Tags
    • gene-checked
    Green HYAL2 in Clefting

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 5.3
    Latest signed off version: v5.0 (1 May 2024)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • cleft lip/palate MONDO:0016044
    • triatrial heart MONDO:0015450
    Tags
    • gene-checked
    Green HYAL2 in Paediatric disorders - additional genes


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • cor triatriatum
    • congenital cardiac malformations
    Tags
    • gene-checked