Epileptic encephalopathy
Gene: EHMT1EnsemblGeneIds (GRCh38): ENSG00000181090
EnsemblGeneIds (GRCh37): ENSG00000181090
OMIM: 607001, Gene2Phenotype
EHMT1 is in 5 panels
5 reviews
Amy McTague (UCL Institute of Child Health)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Kleefstra syndrome
Publications
- Kleefstra et al (2007) Am J Hum Genet 79: 370-377
Variants in this GENE are reported as part of current diagnostic practice
Natalie Trump (NHS - Great Ormond Street Hospital)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Kleefstra syndrome
Publications
- Kleefstra et al (2007) Am J Hum Genet 79: 370-377
Variants in this GENE are reported as part of current diagnostic practice
Manju Kurian (UCL-Institute of Child Health)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Kleefstra syndrome
Publications
- Kleefstra et al (2007) Am J Hum Genet 79: 370-377
Variants in this GENE are reported as part of current diagnostic practice
Richard Scott (North Thames GMC/UCL)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Kleefstra syndrome
Publications
- Kleefstra et al (2007) Am J Hum Genet 79: 370-377
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Comment on mode of inheritance: Checked the imprinted list, confirmed autosomal dominant inheritance on OMIM and monallelic on gene2phenotype.Created: 17 Dec 2015, 3:37 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- UKGTN
- Phenotypes
-
- Kleefstra syndrome
- OMIM
- 607001
- Clinvar variants
- Variants in EHMT1
- Penetrance
- Complete
- Publications
-
- PMID: 16826528
- Panels with this gene
History Filter Activity
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for EHMT1 were set to Kleefstra syndrome
Set publications
Ellen McDonagh (Genomics England Curator)Publications for EHMT1 were set to PMID: 16826528
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for EHMT1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
gel status update
GEL ()The Gel status was updated for this whole panel
Upload gene information
Ellen McDonagh (Genomics England Curator)EHMT1 was added to Epileptic encephalopathypanel. Sources: Expert Review Green
Upload gene information
Ellen McDonagh (Genomics England Curator)EHMT1 was added to Epileptic encephalopathypanel. Sources: Expert Review Green
gel status update
GEL ()The Gel status was updated for this whole panel
Added New Source
Ellen McDonagh (Genomics England Curator)EHMT1 was added to Epileptic encephalopathypanel. Sources: UKGTN