Microcephaly
Gene: EHMT1EnsemblGeneIds (GRCh38): ENSG00000181090
EnsemblGeneIds (GRCh37): ENSG00000181090
OMIM: 607001, Gene2Phenotype
EHMT1 is in 9 panels
1 review
Elena Savva (Victorian Clinical Genetics Services)
OMIM/PMID: 29228531/PMID: 21910222 - microcephaly describes as a feature of kleefstra syndrome
PMID: 28361100 - 18-year-old woman with intellectual disability, severely limited speech, hypotonia, microcephaly, and facial dysmorphisms, de novo single-base frameshift deletion
PMID: 19264732 - Microcephaly was noted in 6/15 patients with a deletion and 2/6 cases with a "mutation and was already present at birth" unclear what mutations these are
Common cause of disease is a microdeletion of 9q34.3, in which microcephaly is commonly reported.
Amber due to inconsistent reports in SNV cases.
Sources: LiteratureCreated: 10 Feb 2022, 5:01 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Kleefstra syndrome 1 MIM#610253
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Amber
- Literature
- Phenotypes
-
- Kleefstra syndrome 1 MIM#610253
- OMIM
- 607001
- Clinvar variants
- Variants in EHMT1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ehmt1 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ehmt1 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Elena Savva (Victorian Clinical Genetics Services)gene: EHMT1 was added gene: EHMT1 was added to Microcephaly. Sources: Literature Mode of inheritance for gene: EHMT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: EHMT1 were set to PMID: 29228531; 28361100; 21910222; 19264732 Phenotypes for gene: EHMT1 were set to Kleefstra syndrome 1 MIM#610253 Review for gene: EHMT1 was set to AMBER