Early onset or syndromic epilepsy
Gene: MED17
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
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
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
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
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
Tag watchlist tag was added to gene: MED17.
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
Publications for gene: MED17 were set to 26004231; 20950787
Source Wessex and West Midlands GLH was added to MED17.
Source NHS GMS was added to MED17.
Sarah Leigh: Gene originally listed on the
Gene: med17 has been classified as Amber List (Moderate Evidence).
NIHRBR-RD Consortium SPEED_v3.0_20170404 was added to MED17. Panel: Genetic Epilepsy Syndromes
Expert Review Amber was added to MED17. Panel: Genetic Epilepsy Syndromes
Victorian Clinical Genetics Services was added to MED17. Panel: Genetic Epilepsy Syndromes
MED17 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review
MED17 was created by Sarah Leigh