Comment on list classification: New gene added by expert reviewer. This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. Based on the evidence and review there is enough evidence to support a gene-disease association; therefore, this gene has been given Green status.
Created: 11 May 2020, 10:24 a.m. | Last Modified: 11 May 2020, 10:24 a.m.
Panel Version: 1.97
Renal malformations are part of the phenotype.
Sources: Expert list
Created: 16 Jan 2020, 4:13 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Kabuki syndrome 1, MIM# 147920
Variants in this GENE are reported as part of current diagnostic practice
Gene: kmt2d has been classified as Green List (High Evidence).
Phenotypes for gene: KMT2D were changed from Kabuki syndrome 1, MIM# 147920 to Kabuki syndrome 1, 147920
gene: KMT2D was added gene: KMT2D was added to CAKUT. 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 23535010 Phenotypes for gene: KMT2D were set to Kabuki syndrome 1, MIM# 147920 Review for gene: KMT2D was set to GREEN gene: KMT2D was marked as current diagnostic