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Genetic epilepsy syndromes

Gene: EHMT1

Green List (high evidence)

EHMT1 (euchromatic histone lysine methyltransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000181090
EnsemblGeneIds (GRCh37): ENSG00000181090
OMIM: 607001, Gene2Phenotype
EHMT1 is in 5 panels

7 reviews

Rebecca Foulger (Genomics England curator)

I don't know

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

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

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

Amy McTague (UCL Institute of Child Health)

Green List (high evidence)

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)

Green List (high evidence)

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)

Green List (high evidence)

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)

Green List (high evidence)

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
  • Wessex and West Midlands GLH
  • NHS GMS
  • Victorian Clinical Genetics Services
  • UKGTN
  • Expert Review Green
Phenotypes
  • Kleefstra syndrome
OMIM
607001
Clinvar variants
Variants in EHMT1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to EHMT1.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to EHMT1.

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Ellen McDonagh: Comment on mode of inheritance

25 Jun 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

Victorian Clinical Genetics Services was added to EHMT1. Panel: Genetic Epilepsy Syndromes

4 Apr 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

EHMT1 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Green,UKGTN

4 Apr 2018, Gel status: 4

Created

Sarah Leigh (Genomics England Curator)

EHMT1 was created by Sarah Leigh