Deafness and congenital structural abnormalities
Gene: KMT2D
Previous reviews re hemifacial microsomia. Hearing loss and structural ear anomalies (cupped ears) are common in Kabuki.Created: 26 Oct 2016, 4:05 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Variants in this GENE are reported as part of current diagnostic practice
Kabuki phenotype different from hemifacial microsomiaCreated: 17 Oct 2016, 12:28 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mode of pathogenicity
Other
Comment when marking as ready: Associated with phenotype in OMIM and G2P / DD. Numerous variants reported.Created: 15 Sep 2016, 1:52 p.m.
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
#147920:Kabuki syndrome 1 [Postnatal growth retardation; Microcephaly; Trapezoid philtrum; Large prominent ears; Recurrent otitis media in infancy; Posteriorly rotated ears; Hearing loss; Preauricular pit; Long palpebral fissures; Eversion of lateral third of lower eyelids; Thick eyelashes; Ptosis; Blue sclerae; Broad, arched eyebrows; Sparse eyebrows; Depressed nasal tip; Short nasal columella; Cleft palate; High-arched palate; Congenital heart defect; Ventricular septal defect; Atrial septal defect; Coarctation of aorta; Aspiration pneumonia; Feeding difficulties; Malabsorption; Intestinal malrotation; Anal stenosis; Imperforate anus; Anoperineal fistula; Small penis; Cryptorchidism; Crossed fused renal ectopia; Single fused kidneys; Ureteropelvic junction obstruction; Scoliosis; Vertebral anomalies; Congenital hip dislocations; Joint hyperextensibility; Short fifth finger; Increased digital ulnar loop and hypothenar loop patterns; Absent digital triradius c and/or d; Persistence of fingerpads; Cafe au lait spots; Hirsutism; Mental retardation; Seizures; Developmental delay; Hypotonia; Congenital hypothyroidism; Premature thelarche; Idiopathic thrombocytopenic purpura; Hemolytic anemia]
Publications
Comment on list classification: Gene green on the Familial hemifacial microsomia (Version 0.148) gene panels which was combined to create this panel, though review from Ana Beleza was "I don't know". Unsure whether Kabuki syndrome should be included on this panel.
Created: 14 Oct 2016, 1:28 p.m.
'KMT2D' is the HGNC approved symbol for the previous symbol MLL2.Created: 29 May 2015, 11:46 a.m.
Gene was originally described as MLL2 by expert.Created: 29 May 2015, 11:44 a.m.
26th Oct 2016: the panels Bilateral microtia version 1.10, Ear malformations with hearing impairment version 0.105, and familial hemifacial microsomia version 0.149 gene panels were combined to create this panel. The panel was revised due to expert review, further curation of evidence and internal clinical evaluation. Ready for promotion to version 1.
This gene has been classified as Green List (High Evidence).
Phenotypes for KMT2D were set to Bilateral Microtia; Kabuki syndrome 1 147920
Publications for KMT2D were set to 11782551; 12473749; 20711175; 21163964; 21607748; 21671394; 21796119; 22126750; 23913813; 24633898; 25972376; 26331536; 9247308
This gene has been classified as Amber List (Moderate Evidence).
KMT2D was added to Deafness and congenital structural abnormalitiespanel. Source: Emory Genetics Laboratory KMT2D was added to Deafness and congenital structural abnormalitiespanel. Source: Illumina TruGenome Clinical Sequencing Services KMT2D was added to Deafness and congenital structural abnormalitiespanel. Source: Radboud University Medical Center, Nijmegen KMT2D was added to Deafness and congenital structural abnormalitiespanel. Source: UKGTN KMT2D was added to Deafness and congenital structural abnormalitiespanel. Source: Expert Review Green Model of inheritance for gene KMT2D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
KMT2D was added to Deafness and congenital structural abnormalitiespanel. Sources: Expert list,Expert Review Red
KMT2D was created by sleigh