Choanal atresiaGene: KMT2D
The association between LoF variants in KMT2D and Kabuki syndrome is well established. 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. 7 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: 4 Jun 2020, 2:23 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
KMT2D-associated neurodevelopmental syndrome
Variants in this GENE are reported as part of current diagnostic practice
gene: KMT2D was added gene: KMT2D was added to Choanal atresia. Sources: Literature Mode of inheritance for gene: KMT2D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KMT2D were set to 31949313 Phenotypes for gene: KMT2D were set to KMT2D-associated neurodevelopmental syndrome Review for gene: KMT2D was set to GREEN gene: KMT2D was marked as current diagnostic