Deafness and congenital structural abnormalities

Gene: KMT2D

Green List (high evidence)

KMT2D (lysine methyltransferase 2D)
EnsemblGeneIds (GRCh38): ENSG00000167548
EnsemblGeneIds (GRCh37): ENSG00000167548
OMIM: 602113, Gene2Phenotype
KMT2D is in 15 panels

7 reviews

Richard Scott (Genomics England Curator)

Green List (high evidence)

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

Muriel Holder (Clinical Genetics, Guy's Hospital)

Red List (low evidence)

Kabuki phenotype different from hemifacial microsomia
Created: 17 Oct 2016, 12:28 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Mode of pathogenicity
Other

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and G2P / DD. Numerous variants reported.
Created: 15 Sep 2016, 1:52 p.m.

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)

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.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Bilateral Microtia
  • Kabuki syndrome 1 147920
OMIM
602113
Clinvar variants
Variants in KMT2D
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

26 Oct 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

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.

26 Oct 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

14 Oct 2016, Gel status: 2

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for KMT2D were set to Bilateral Microtia; Kabuki syndrome 1 147920

14 Oct 2016, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for KMT2D were set to 11782551; 12473749; 20711175; 21163964; 21607748; 21671394; 21796119; 22126750; 23913813; 24633898; 25972376; 26331536; 9247308

14 Oct 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

5 Oct 2016, Gel status: 1

Set Mode of Inheritance, Added New Source

Sarah Leigh (Genomics England Curator)

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

5 Oct 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

KMT2D was added to Deafness and congenital structural abnormalitiespanel. Sources: Expert list,Expert Review Red

5 Oct 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

KMT2D was created by sleigh