Choanal atresia

Gene: KMT2D

Green List (high evidence)

Note new association between missense variants located in a specific region spanning exons 38 and 39 and affecting highly conserved residues cause a novel multiple malformations syndrome distinct from Kabuki syndrome, through a dominant negative mechanism. - >10 unrelated families with choanal atresia, athelia or hypoplastic nipples, branchial sinus abnormalities, neck pits, lacrimal duct anomalies, hearing loss, external ear malformations, and thyroid abnormalities. None of the individuals had intellectual disability.

Created: 5 Jan 2023, 12:17 a.m. | Last Modified: 5 Jan 2023, 12:17 a.m.

Panel Version: 1.3

Choanal atresia is a rare feature of Kabuki syndrome.
Sources: Expert Review

Created: 27 Mar 2021, 12:14 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Kabuki syndrome 1, MIM# 147920

Publications

• 24705355
• 27991736
• 31949313
• 32083401