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Genetic epilepsy syndromes

Gene: MED17

Amber List (moderate evidence)

MED17 (mediator complex subunit 17)
EnsemblGeneIds (GRCh38): ENSG00000042429
EnsemblGeneIds (GRCh37): ENSG00000042429
OMIM: 603810, Gene2Phenotype
MED17 is in 5 panels

4 reviews

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Another pair of sibs reported, compound het variants (frameshift and missense), seizures part of the phenotype.
Created: 24 Jan 2020, 7:38 a.m. | Last Modified: 24 Jan 2020, 7:38 a.m.
Panel Version: 2.0

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microcephaly postnatal progressive with seizures and brain atrophy, 613668

Publications

Variants in this GENE are reported as part of current diagnostic practice

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: Alison Callaway and John Taylor. Suggested gene rating: Amber.
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)

I don't know

Appears to be a founder effect in Caucasian Jews, PMID 20950787, but relatively few other variants / other publications to date.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microcephaly postnatal progressive with seizures and brain atrophy, 613668

Publications

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

Gene originally listed on the Intellectual disability panel V2.42.
Associated with relevant phenotypes in OMIM and as probable Gen2Phen gene. At least 2 variants reported. Homozygous variant p.L371P was identified in 9 patients from 4 Caucasus Jewish families (indicative of a founder variant)(PMID 20950787). Variants c.1013-5A>G and c.1484T>G were reported as compound heterozygotes in two siblings of non-consanguineous parents, they displayed a milder phenotype which did not include seizures.
Created: 10 Apr 2018, 10:53 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microcephaly, postnatal progressive, with seizures and brain atrophy 613668

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Amber
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Victorian Clinical Genetics Services
  • Expert Review
Phenotypes
  • Microcephaly, postnatal progressive, with seizures and brain atrophy 613668
OMIM
603810
Clinvar variants
Variants in MED17
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to MED17.

6 Aug 2019, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to MED17.

11 Dec 2018, Gel status: 2

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Sarah Leigh: Gene originally listed on the

26 Sep 2018, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: med17 has been classified as Amber List (Moderate Evidence).

26 Jun 2018, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

NIHRBR-RD Consortium SPEED_v3.0_20170404 was added to MED17. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

Expert Review Amber was added to MED17. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

Victorian Clinical Genetics Services was added to MED17. Panel: Genetic Epilepsy Syndromes

10 Apr 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

MED17 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review

10 Apr 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

MED17 was created by Sarah Leigh