Microcephaly
Gene: KMT2EEnsemblGeneIds (GRCh38): ENSG00000005483
EnsemblGeneIds (GRCh37): ENSG00000005483
OMIM: 608444, Gene2Phenotype
KMT2E is in 6 panels
1 review
Elena Savva (Victorian Clinical Genetics Services)
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: LiteratureCreated: 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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: kmt2e has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: kmt2e has been classified as Green List (High Evidence).
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