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  3. HYAL2
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Congenital Heart Defect

Gene: HYAL2

Green List (high evidence)
HYAL2 (hyaluronoglucosaminidase 2)
EnsemblGeneIds (GRCh38): ENSG00000068001
EnsemblGeneIds (GRCh37): ENSG00000068001
OMIM: 603551, Gene2Phenotype
HYAL2 is in 4 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Muggenthaler-Chowdhury-Chioza syndrome, MIM# 621063

Created: 17 Jan 2025, 4:58 a.m.
Last Modified: 17 Jan 2025, 4:58 a.m.
Panel version: 0.429

Krithika Murali (Victorian Clinical Genetics Services)

Green List (high evidence)

Combined reported phenotypic features of 17 individuals from both studies
• Hyperterlorism 13/16
• External ear anomalies – 11/14
• Cleft lip/palate – 10/17
• Micrognathia – 9/14
• Cardiac anomalies 12/17
• Frontal bossing 5/14
• Ptosis 5/13
• Pectus excavatum 7/16
• Myopia 11/11
• Cataract 2/8
• Hearing loss 7/16
Sources: Literature
Created: 4 Feb 2022, 4:43 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cleft lip and palate; cor triatriatum; congenital cardiac malformations

Publications

Created: 4 Feb 2022, 4:43 a.m.

Panel version: 0.187

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Muggenthaler-Chowdhury-Chioza syndrome, MIM# 621063
OMIM
603551
Clinvar variants
Variants in HYAL2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: HYAL2 were changed from Cleft lip and palate; cor triatriatum; congenital cardiac malformations to Muggenthaler-Chowdhury-Chioza syndrome, MIM# 621063

4 Feb 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hyal2 has been classified as Green List (High Evidence).

4 Feb 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hyal2 has been classified as Green List (High Evidence).

4 Feb 2022, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Krithika Murali (Victorian Clinical Genetics Services)

gene: HYAL2 was added gene: HYAL2 was added to Congenital Heart Defect. Sources: Literature Mode of inheritance for gene: HYAL2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HYAL2 were set to 34906488; 28081210; 23172227; 26515055 Phenotypes for gene: HYAL2 were set to Cleft lip and palate; cor triatriatum; congenital cardiac malformations Review for gene: HYAL2 was set to GREEN