Epileptic encephalopathy
Gene: EHMT1
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Kleefstra syndrome
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Kleefstra syndrome
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Kleefstra syndrome
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Kleefstra syndrome
Publications
Variants in this GENE are reported as part of current diagnostic practice
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.
This gene has been classified as Green List (High Evidence).
Phenotypes for EHMT1 were set to Kleefstra syndrome
Publications for EHMT1 were set to PMID: 16826528
Mode of inheritance for EHMT1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
The Gel status was updated for this whole panel
EHMT1 was added to Epileptic encephalopathypanel. Sources: Expert Review Green
EHMT1 was added to Epileptic encephalopathypanel. Sources: Expert Review Green
The Gel status was updated for this whole panel
EHMT1 was added to Epileptic encephalopathypanel. Sources: UKGTN