Clefting disorders

Gene: HYAL2

Green List (high evidence)

PMID 28081210 Muggenthaler et al 2017 - 2 unrelated consanguineous extended families (Amish and Arab) with an orofacial clefting phenotype with cardiac anomalies

PMID 34906488 Fasham et al 2021 - report 10 additional individuals from 6 unrelated families (Amish x2 - same founder variant as in previous study, Romanian, Italian, Northern European ancestry)

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

Created: 4 Feb 2022, 4:29 a.m. | Last Modified: 4 Feb 2022, 4:29 a.m.

Panel Version: 0.170

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

• 34906488
• 28081210
• 23172227
• 26515055

I don't know

2 unrelated consanguineous extended families (Amish and Arab) with an orofacial clefting phenotype with cardiac anomalies.
Sources: Expert list

Created: 31 Jan 2021, 10:29 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

• 28081210
• 23172227
• 26515055