Early onset or syndromic epilepsy
Gene: EHMT1
Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green.Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
Kleefstra syndrome - AD. Seizures are a feature. Kleffstra et al 2009 - 7/24 patients had seizures. 6/24 had intragenic mutations not 9q deletions. These were 2 nonsense, a deletion, 2 splice site and 1 missense. Verhoeven et al, 2011, 3 unrelated patients - no mention of seizures. Has an association where epilepsy is sometimes associated with this.Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Kleefstra syndrome 1,610253
Publications
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.
Source Wessex and West Midlands GLH was added to EHMT1.
Source NHS GMS was added to EHMT1.
Ellen McDonagh: Comment on mode of inheritance
Victorian Clinical Genetics Services was added to EHMT1. Panel: Genetic Epilepsy Syndromes
EHMT1 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Green,UKGTN
EHMT1 was created by Sarah Leigh