Kabuki syndrome
Gene: KMT2D
Comment on list classification: Confirmed DD gene for Kabuki syndrome, and all reviewers agree.Created: 3 May 2016, 9:12 a.m.
Phenotypes for gene: KMT2D were changed from Kabuki Syndrome; Kabuki Syndrome Type 1 to Kabuki syndrome 1, OMIM:147920
This gene has been classified as Green List (High Evidence).
Publications for KMT2D were set to PMID: 22126750; 22901312; 20711175; 21671394; 21607748; 24633898
Phenotypes for KMT2D were set to Kabuki Syndrome; Kabuki Syndrome Type 1
Publications for KMT2D were set to PMID: 22126750; 22901312; 20711175; 20711175; 21671394; 21607748; 24633898
Publications for KMT2D were set to 22126750; 22901312; 20711175; 20711175; 21671394; 21607748; 24633898
Mode of inheritance for KMT2D was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
KMT2D was added to Kabuki syndromepanel. Sources: Eligibility statement prior genetic testing
KMT2D was added to Kabuki syndromepanel. Sources: UKGTN
KMT2D was added to Kabuki syndromepanel. Sources: Emory Genetics Laboratory
KMT2D was added to Kabuki syndromepanel. Sources: Illumina TruGenome Clinical Sequencing Services
KMT2D was added to Kabuki syndromepanel. Sources: Eligibility Statements for GeL