Fetal hydropsGene: KMT2D
There are reports of hydrops fetalis in Kabuki syndrome.
Sources: Expert list
Created: 30 Dec 2019, 6:48 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Variants in this GENE are reported as part of current diagnostic practice
gene: KMT2D was added gene: KMT2D was added to Fetal hydrops. Sources: Expert list Mode of inheritance for gene: KMT2D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KMT2D were set to 30293990; 27568880; 15690368 Phenotypes for gene: KMT2D were set to Kabuki syndrome Review for gene: KMT2D was set to GREEN gene: KMT2D was marked as current diagnostic