Clefting disorders
Gene: HYAL2
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 7/16Created: 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
2 unrelated consanguineous extended families (Amish and Arab) with an orofacial clefting phenotype with cardiac anomalies.
Sources: Expert listCreated: 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
Phenotypes for gene: HYAL2 were changed from Cleft lip and palate; cor triatriatum; congenital cardiac malformations to Muggenthaler-Chowdhury-Chioza syndrome, MIM# 621063
Publications for gene: HYAL2 were set to 28081210; 23172227; 26515055
Gene: hyal2 has been classified as Green List (High Evidence).
Gene: hyal2 has been classified as Amber List (Moderate Evidence).
Gene: hyal2 has been classified as Amber List (Moderate Evidence).
gene: HYAL2 was added gene: HYAL2 was added to Clefting_GEL. Sources: Expert list Mode of inheritance for gene: HYAL2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HYAL2 were set to 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 AMBER