Growth failure
Gene: KMT2D
Association with Kabuki syndrome: failure to thrive in infancy and short stature are key features.
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. Extreme short stature reported.Created: 16 Aug 2021, 8:24 a.m. | Last Modified: 16 Aug 2021, 8:32 a.m.
Panel Version: 0.167
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Kabuki syndrome 1, MIM# 147920; KMT2D-associated neurodevelopmental syndrome
Publications
Phenotypes for gene: KMT2D were changed from Kabuki syndrome 1, MIM# 147920 to Kabuki syndrome 1, MIM# 147920; KMT2D-associated neurodevelopmental syndrome
Publications for gene: KMT2D were set to 21882399
Publications for gene: KMT2D were set to
Gene: kmt2d has been classified as Green List (High Evidence).
Phenotypes for gene: KMT2D were changed from Kabuki to Kabuki syndrome 1, MIM# 147920
Gene: kmt2d has been classified as Green List (High Evidence).
gene: KMT2D was added gene: KMT2D was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red Mode of inheritance for gene: KMT2D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KMT2D were set to Kabuki