Microcephaly
Gene: MED17

MED17 (mediator complex subunit 17)
EnsemblGeneIds (GRCh38): ENSG00000042429
EnsemblGeneIds (GRCh37): ENSG00000042429
OMIM: 603810, Gene2Phenotype
MED17 is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Four families reported initially, founder effect for p.Leu371Pro. Two additional families reported since with different variants, one family with milder phenotype.
Created: 31 Aug 2020, 6:26 a.m. | Last Modified: 31 Aug 2020, 6:26 a.m.

Panel Version: 0.186

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 31 Aug 2020, 6:26 a.m.
Last Modified: 31 Aug 2020, 6:26 a.m.
Panel version: 0.186

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

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