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Early onset or syndromic epilepsy v9.13 MED17 Ida Ertmanska changed review comment from: Comment on list classification: There are now 3 unrelated families where affected individuals harboured biallelic MED17 variants and presented with seizures (among other syndromic symptoms). Based on available evidence, this gene can be promoted to Green at the next update.; to: Comment on list classification: There are 3 unrelated families (Jewish families with potential founder variant counted as one) where affected individuals harboured biallelic MED17 variants and presented with seizures (among other syndromic symptoms). Based on available evidence, this gene can be promoted to Green at the next update.
Early onset or syndromic epilepsy v9.13 MED17 Ida Ertmanska edited their review of gene: MED17: Changed publications to: 20950787, 26004231, 30345598, 36508181
Early onset or syndromic epilepsy v9.13 MED17 Ida Ertmanska changed review comment from: PMID: 30345598 Agostini et al., 2018
Report of two siblings presenting with failure to thrive in early years, progressive microcephaly, moderate intellectual disability, developmental delay, ataxic gait and seizures with an identical EEG pattern, and minimal cerebellar atrophy. Both sibs were comp het for MED17: p.Glu16fs and p.Gly253Arg (confirmed in trans).

PMID: 36508181 Rafiullah et al., 2022
Consanguineous family with individuals presenting with severe ID, seizure, and progressive microcephaly. Magnetic resonance imaging (MRI) of the brain showed mild brain atrophy and myelination defect. WES detected homozygous MED17 variant NM_004268.5_c.871T>C; p.Trp291Gly - confirmed het in unaffected parents and sibs.

MED17 is associated with AR Microcephaly, postnatal progressive, with seizures and brain atrophy, MIM:613668 (OMIM accessed 22nd Jun 2026).; to: PMID 20950787 Kaufmann et al., 2010
Homozygous variant p.L371P was identified in 9 patients from 4 Caucasus Jewish families. Five infants from four unrelated families presented soon after birth with spasticity, epilepsy, and profound psychomotor retardation. Head circumference percentiles declined, and brain MRI disclosed marked cereberal and cerebellar atrophy with severe myelination defect.

PMID: 26004231 Hirabayashi, Saitsu, & Matsumoto, 2016
2 sibs with nystagmus and sudden opistotonic posturing from the early infancy, developmental delay and marked choreiform movements with hypotonia in the childhood. The brother had a mild postnatal microcephaly. Brain MRI of the sister showed mild delay of myelination, dilated anterior horn and mild cerebellar atrophy. WES revealed comp het MED17 mutations in both: c.1013-5A>G, p. Ser338Asnfs*15 and c.1484T>G, p.Leu495Trp (in trans).

PMID: 30345598 Agostini et al., 2018
Report of two siblings presenting with failure to thrive in early years, progressive microcephaly, moderate intellectual disability, developmental delay, ataxic gait and seizures with an identical EEG pattern, and minimal cerebellar atrophy. Both sibs were comp het for MED17: p.Glu16fs and p.Gly253Arg (confirmed in trans).

PMID: 36508181 Rafiullah et al., 2022
Consanguineous family with individuals presenting with severe ID, seizure, and progressive microcephaly. Magnetic resonance imaging (MRI) of the brain showed mild brain atrophy and myelination defect. WES detected homozygous MED17 variant NM_004268.5_c.871T>C; p.Trp291Gly - confirmed het in unaffected parents and sibs.

MED17 is associated with AR Microcephaly, postnatal progressive, with seizures and brain atrophy, MIM:613668 (OMIM accessed 22nd Jun 2026).
Early onset or syndromic epilepsy v9.13 MED17 Ida Ertmanska Classified gene: MED17 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v9.13 MED17 Ida Ertmanska Added comment: Comment on list classification: There are now 3 unrelated families where affected individuals harboured biallelic MED17 variants and presented with seizures (among other syndromic symptoms). Based on available evidence, this gene can be promoted to Green at the next update.
Early onset or syndromic epilepsy v9.13 MED17 Ida Ertmanska Gene: med17 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v9.12 MED17 Ida Ertmanska Publications for gene: MED17 were set to 26004231; 20950787; 30345598
Early onset or syndromic epilepsy v9.11 MED17 Ida Ertmanska Tag watchlist was removed from gene: MED17.
Tag Q2_26_promote_green tag was added to gene: MED17.
Early onset or syndromic epilepsy v9.11 MED17 Ida Ertmanska reviewed gene: MED17: Rating: GREEN; Mode of pathogenicity: None; Publications: 30345598, 36508181; Phenotypes: Microcephaly, postnatal progressive, with seizures and brain atrophy, OMIM:613668; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v2.424 MED17 Ivone Leong Tag watchlist tag was added to gene: MED17.
Early onset or syndromic epilepsy v2.424 MED17 Ivone Leong 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
Early onset or syndromic epilepsy v2.423 MED17 Ivone Leong Publications for gene: MED17 were set to 26004231; 20950787
Early onset or syndromic epilepsy v2.422 MED17 Ivone Leong reviewed gene: MED17: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Early onset or syndromic epilepsy v2.0 MED17 Zornitza Stark reviewed gene: MED17: Rating: GREEN; Mode of pathogenicity: None; Publications: 30345598; Phenotypes: Microcephaly postnatal progressive with seizures and brain atrophy, 613668; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Early onset or syndromic epilepsy v1.191 MED17 Rebecca Foulger Source Wessex and West Midlands GLH was added to MED17.
Early onset or syndromic epilepsy v1.190 MED17 Rebecca Foulger Source NHS GMS was added to MED17.
Early onset or syndromic epilepsy v1.189 MED17 Rebecca Foulger reviewed gene: MED17: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 MED17 Tracy Lester reviewed gene: MED17: Rating: AMBER; Mode of pathogenicity: ; Publications: 20950787; Phenotypes: Microcephaly postnatal progressive with seizures and brain atrophy, 613668; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.471 MED17 Sarah Leigh Marked gene: MED17 as ready
Early onset or syndromic epilepsy v0.471 MED17 Sarah Leigh Gene: med17 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy MED17 Sarah Leigh Added gene to panel