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  3. MED17
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Early onset or syndromic epilepsy

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

5 reviews

Ivone Leong (Genomics England Curator)

I don't know

Sibs in PMID:26004231 had a milder phenotype and did not have seizures. Therefore, there is still currently not enough evidence to support a gene-disease association. Recommend that this gene stays Amber until further evidence is available.
Created: 20 Sep 2021, 1:12 p.m. | Last Modified: 20 Sep 2021, 1:12 p.m.
Panel Version: 2.422
Created: 20 Sep 2021, 1:12 p.m.
Last Modified: 20 Sep 2021, 1:12 p.m.
Panel version: 2.422

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

Created: 24 Jan 2020, 7:38 a.m.
Last Modified: 24 Jan 2020, 7:38 a.m.
Panel version: 2.0

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
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

Created: 6 Aug 2019, 8:31 p.m.
Last Modified: 6 Aug 2019, 8:31 p.m.
Panel version: 1.188

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

Created: 10 Apr 2018, 10:53 a.m.

Panel version: 0.95

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, OMIM:613668
Tags
watchlist
OMIM
603810
Clinvar variants
Variants in MED17
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Sep 2021, Gel status: 2

Added Tag

Ivone Leong (Genomics England Curator)

Tag watchlist tag was added to gene: MED17.

20 Sep 2021, Gel status: 2

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: MED17 were changed from Microcephaly, postnatal progressive, with seizures and brain atrophy 613668 to Microcephaly, postnatal progressive, with seizures and brain atrophy, OMIM:613668

20 Sep 2021, Gel status: 2

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: MED17 were set to 26004231; 20950787

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