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Severe microcephaly

Gene: MED17

No list

MED17 (mediator complex subunit 17)
EnsemblGeneIds (GRCh38): ENSG00000042429
EnsemblGeneIds (GRCh37): ENSG00000042429
OMIM: 603810, Gene2Phenotype
MED17 is in 6 panels

1 review

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Microcephaly, postnatal progressive, with seizures and brain atrophy, MIM# 613668
OMIM
603810
Clinvar variants
Variants in MED17
Penetrance
None
Publications
Panels with this gene

History Filter Activity

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