Bilateral microtia

Gene: KMT2D

Red List (low evidence)

KMT2D (lysine methyltransferase 2D)
EnsemblGeneIds (GRCh38): ENSG00000167548
EnsemblGeneIds (GRCh37): ENSG00000167548
OMIM: 602113, Gene2Phenotype
KMT2D is in 21 panels

4 reviews

Ana Beleza (Bristol Regional Genetics Service)

Variants in this GENE are reported as part of current diagnostic practice

Jun Shen (Harvard Medical School)

Red List (low evidence)

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

Maria Bitner-Glindzicz (UCL)

Red List (low evidence)

Ellen McDonagh (Genomics England Curator)

'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.

History Filter Activity

4 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

28 Apr 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

KMT2D was added to Bilateral Microtiapanel. Sources: Expert list