1. Panels
  2. Fetal anomalies
  3. KMT2E
Genes in panel
Prev Next

Fetal anomalies

Gene: KMT2E

Amber List (moderate evidence)
KMT2E (lysine methyltransferase 2E)
EnsemblGeneIds (GRCh38): ENSG00000005483
EnsemblGeneIds (GRCh37): ENSG00000005483
OMIM: 608444, Gene2Phenotype
KMT2E is in 4 panels

3 reviews

Arina Puzriakova (Genomics England Curator)

I don't know

Upgraded from Red to Amber, inline with the recent review by the R21 Clinical Oversight Group.
Created: 5 Sep 2025, 4:41 p.m. | Last Modified: 5 Sep 2025, 4:41 p.m.
Panel Version: 6.29
Created: 5 Sep 2025, 4:41 p.m.
Last Modified: 5 Sep 2025, 4:41 p.m.
Panel version: 6.29

Natalie Bibb (C&S GLH)

I don't know

This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Created: 5 Sep 2025, 4:31 p.m. | Last Modified: 5 Sep 2025, 4:31 p.m.
Panel Version: 6.28
Green in UK, epilepsy and ID panels. Amber in Australian FA panel. PMID: 31079897 neurodevelopmental disorder and epilepsy. Mostly de novo LOF function variants, fs, nonsense, microdeletions. Patients with missense variants reportedly more severe phenotype suggestive of different mechanism of disease. Generally phenotype presentation postnatal, macrocephaly (LOF) mild ID, hypotonia, functional gastrointestinal abnormalities, and a subtle facial gestalt ~25% had epilepsy . Individuals with missense variants more severe DD, Microcephaly, epilepsy in all (treatment-resistant infantile epileptic encephalopathy). Non specific brain anomlaies variably reported in cohort. PMID: 33111303 - 2 additional cases consistent phenotype.
Created: 5 Sep 2025, 2:55 p.m. | Last Modified: 5 Sep 2025, 2:55 p.m.
Panel Version: 6.24

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
O'Donnell-Luria-Rodan syndrome

Publications

Created: 5 Sep 2025, 2:55 p.m.
Last Modified: 5 Sep 2025, 2:55 p.m.
Panel version: 6.28

Rebecca Foulger (Genomics England curator)

Red List (low evidence)

This gene was reviewed by Anna de Burca (Genomics England Clinical Team). Outcome of review: Rate KMT2E as Red.
Created: 25 Jul 2019, 8:04 a.m. | Last Modified: 25 Jul 2019, 8:04 a.m.
Panel Version: 0.311
New gene:disorder association added to DDG2P since PAGE download: INTELLECTUAL DISABILITY. DDG2P rating for INTELLECTUAL DISABILITY: confirmed. DDG2P MOI listed as: monoallelic. DDG2P Mode of pathogenicity listed as loss of function.
Created: 4 Mar 2019, 2:34 p.m.
Created: 4 Mar 2019, 2:34 p.m.

Panel version: 0.311

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • DD-Gene2Phenotype
Phenotypes
  • O'Donnell-Luria-Rodan syndrome
  • INTELLECTUAL DISABILITY
  • O'Donnell-Luria-Rodan syndrome, 618512
OMIM
608444
Clinvar variants
Variants in KMT2E
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Sep 2025, Gel status: 2

Added New Source, Set mode of inheritance, Set Phenotypes, Set publications, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Amber was added to KMT2E. Mode of inheritance for gene KMT2E was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes O'Donnell-Luria-Rodan syndrome for gene: KMT2E Publications for gene: KMT2E were updated from to 40186013 Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

12 Dec 2019, Gel status: 1

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: KMT2E were changed from INTELLECTUAL DISABILITY to INTELLECTUAL DISABILITY; O'Donnell-Luria-Rodan syndrome, 618512

25 Jul 2019, Gel status: 1

Added New Source, Status Update

Rebecca Foulger (Genomics England curator)

Source Expert Review Red was added to KMT2E. Rating Changed from Green List (high evidence) to Red List (low evidence)

4 Mar 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: KMT2E was added gene: KMT2E was added to Fetal anomalies. Sources: DD-Gene2Phenotype,Expert Review Green Mode of inheritance for gene: KMT2E was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KMT2E were set to INTELLECTUAL DISABILITY