Genomics England
GMS Panels
Panels
Genes and Entities

HYAL2

hyaluronoglucosaminidase 2
OMIM: 603551
PanelMode of inheritanceDetails
3 panels
Green
in Clefting
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
cleft lip/palate MONDO:0016044, triatrial heart MONDO:0015450
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
HYAL2-related syndrome with cleft lip and palate and congenital cardiac anomalies
Green
in Paediatric disorders - additional genes
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
cor triatriatum, congenital cardiac malformations