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Gene: TBX22

Red List (low evidence)

Generally non-syndromic, except for the single report of a syndromic form. Therefore does not meet inclusion criteria.

Created: 16 Jan 2025, 8:20 a.m. | Last Modified: 16 Jan 2025, 8:20 a.m.

Panel Version: 1.1046

I don't know

1. Cleft palate with ankyloglossia (MIM# 303400)
- More than 10 families reported with cleft palate/ankyloglossia and variants in this gene.
- PMID:36901693 - Characterised by a cleft palate phenotype that is most often present in males and ranges from a high-arched palate, bifid uvula, submucous cleft palate, soft cleft palate, to complete cleft palate
- OMIM, PMID:36901693 - Ankyloglossia/ bifid uvula/cleft palate reported in heterozygous females
- Overall mild phenotype although PMID: 21375406 describes 1x TBX22 hemizygous individual with unilateral complete cleft lip and palate, ankyloglossia, hypodontia of the left maxillary second premolar, carpal bone anomalies, and hypoplastic thumb of the right hand. No other genes were tested.

2. Abruzzo-Erickson syndrome, MIM# 302905
PMID:22784330 - Single family reported with Abruzzo-Erickson syndrome, a syndromic form of cleft palate. Did not find additional reports on this phenotype

Created: 9 Jan 2025, 4:15 a.m. | Last Modified: 9 Jan 2025, 4:21 a.m.

Panel Version: 1.992

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Cleft palate with ankyloglossia (MIM# 303400)

Publications

• 36901693
• 22784330
• 21375406

Variants in this GENE are reported as part of current diagnostic practice