1. Genes and Genomic Entities
  2. HYAL2

HYAL2

hyaluronoglucosaminidase 2
OMIM: 603551, Gene2Phenotype

5 panels

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

Level 3: Congenital heart disease
Level 2: Cardiovascular disorders
Version 1.90

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Muggenthaler-Chowdhury-Chioza syndrome, OMIM:621063
Green HYAL2 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.140
Latest signed off version: v6.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Muggenthaler-Chowdhury-Chioza syndrome, OMIM:621063
Green HYAL2 in DDG2P


Version 6.424
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
    • HYAL2-related syndrome with cleft lip and palate and congenital cardiac anomalies
    Green HYAL2 in Clefting


    Level 2: Musculoskeletal
    Version 6.20
    Latest signed off version: v6.5 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Muggenthaler-Chowdhury-Chioza syndrome, OMIM:621063
    Green HYAL2 in Paediatric disorders - additional genes


    Level 2: Developmental disorders
    Version 7.31
    Latest signed off version: v7.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Muggenthaler-Chowdhury-Chioza syndrome, OMIM:621063