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  3. MED17
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Intellectual_disability

Gene: MED17

Red List (low evidence)
MED17 (mediator complex subunit 17)
EnsemblGeneIds (GRCh38): ENSG00000042429
EnsemblGeneIds (GRCh37): ENSG00000042429
OMIM: 603810, Gene2Phenotype
MED17 is in 5 panels

0 reviews

Details

Sources
  • Candidate gene (Grozeva et al, 2015)
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Microcephaly, postnatal progressive, with seizures and brain atrophy, 613668
  • Intellectual disability
OMIM
603810
Clinvar variants
Variants in MED17
Penetrance
Complete
Panels with this gene

History Filter Activity

8 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

MED17 was added to Intellectual_disabilitypanel. Source: Candidate gene (Grozeva et al, 2015)

8 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

MED17 was added to Intellectual_disabilitypanel. Sources: Radboud University Medical Center, Nijmegen