Fetal anomalies
Gene: KMT2E

KMT2E (lysine methyltransferase 2E)
EnsemblGeneIds (GRCh38): ENSG00000005483
EnsemblGeneIds (GRCh37): ENSG00000005483
OMIM: 608444, Gene2Phenotype
KMT2E is in 6 panels

2 reviews

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 31079897: microcephaly was reported in 2/3 patients with de novo missense variants

PMID: 33111303: also reports patients with missense variants and microcephaly

Potentially alternative mechanism due to the more severe presentation
Sources: Literature
Created: 2 Jul 2021, 12:43 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
O'Donnell-Luria-Rodan syndrome MIM#618512

Publications

PMID: 31079897
33111303

Mode of pathogenicity
Other

Created: 2 Jul 2021, 12:43 a.m.

Panel version: Imported from Microcephaly panel version 1.28

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Micro/macrocephaly reported, see below, age of onset uncertain. Non-specific brain abnormalities also.

38 individuals from 36 families reported. Almost all variants occurred de novo, and most were truncating. Most affected individuals with protein-truncating variants presented with mild intellectual disability. Additional common features include autism, macrocephaly, hypotonia, functional gastrointestinal abnormalities, and a subtle facial gestalt. Epilepsy was present in about one-fifth of individuals with truncating variants and was responsive to treatment with anti-epileptic medications in almost all. The four individuals with missense variants presented with the most severe developmental delays. Epilepsy was present in all individuals with missense variants, often manifesting as treatment-resistant infantile epileptic encephalopathy. Microcephaly was also common in this group. Haploinsufficiency versus gain-of-function or dominant-negative effects specific to these missense variants in KMT2E postulated to explain this divergence in phenotype.
Created: 14 Apr 2020, 2:32 a.m. | Last Modified: 21 Feb 2022, 1:57 a.m.

Panel Version: 0.3718

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
O'Donnell-Luria-Rodan syndrome, MIM# 618512; Intellectual disability; Autism; Seizures

Publications

31079897

Created: 14 Apr 2020, 2:32 a.m.
Last Modified: 21 Feb 2022, 1:57 a.m.
Panel version: 0.3718

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Amber
Genomics England PanelApp
Literature
Genetic Health Queensland

Phenotypes

O'Donnell-Luria-Rodan syndrome MIM#618512

OMIM

608444

Clinvar variants

Variants in KMT2E

Penetrance

None

Publications

Panels with this gene