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Microcephaly

Gene: KMT2E

Green List (high evidence)

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

1 review

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

Mode of pathogenicity
Other

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • O'Donnell-Luria-Rodan syndrome MIM#618512
OMIM
608444
Clinvar variants
Variants in KMT2E
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

2 Jul 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kmt2e has been classified as Green List (High Evidence).

2 Jul 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kmt2e has been classified as Green List (High Evidence).

2 Jul 2021, Gel status: 0

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

Elena Savva (Victorian Clinical Genetics Services)

gene: KMT2E was added gene: KMT2E was added to Microcephaly. Sources: Literature Mode of inheritance for gene: KMT2E was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KMT2E were set to PMID: 31079897; 33111303 Phenotypes for gene: KMT2E were set to O'Donnell-Luria-Rodan syndrome MIM#618512 Mode of pathogenicity for gene: KMT2E was set to Other Review for gene: KMT2E was set to GREEN