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  3. MED17
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Severe microcephaly

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

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. This gene as been given an Amber rating as 2 out of 3 cases (PMID:20950787 is caused by founder effect) have severe microcephaly. Until further evidence is available this gene will remain as Amber.
Created: 20 Sep 2021, 1:04 p.m. | Last Modified: 20 Sep 2021, 1:04 p.m.
Panel Version: 2.239
Created: 20 Sep 2021, 1:04 p.m.
Last Modified: 20 Sep 2021, 1:04 p.m.
Panel version: 2.239

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Five individuals from four families reported initially, founder effect for p.Leu371Pro. Two additional families reported since with different variants, one family with milder phenotype.
Sources: Expert list
Created: 31 Aug 2020, 6:27 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

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

Created: 31 Aug 2020, 6:27 a.m.

Panel version: 2.19

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
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

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

20 Sep 2021, Gel status: 0

Added Tag

Ivone Leong (Genomics England Curator)

Tag watchlist tag was added to gene: MED17.

20 Sep 2021, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

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

20 Sep 2021, Gel status: 0

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: MED17 were set to 20950787; 30345598; 26004231

31 Aug 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

gene: MED17 was added gene: MED17 was added to Severe microcephaly. Sources: Expert list Mode of inheritance for gene: MED17 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MED17 were set to 20950787; 30345598; 26004231 Phenotypes for gene: MED17 were set to Microcephaly, postnatal progressive, with seizures and brain atrophy, MIM# 613668 Review for gene: MED17 was set to GREEN gene: MED17 was marked as current diagnostic