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Autism

Gene: MED13

Amber List (moderate evidence)

MED13 (mediator complex subunit 13)
EnsemblGeneIds (GRCh38): ENSG00000108510
EnsemblGeneIds (GRCh37): ENSG00000108510
OMIM: 603808, Gene2Phenotype
MED13 is in 3 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Each gene in the SFARI Human Gene module has a dedicated entry summary page, see here for more info on this gene: https://gene.sfari.org/database/human-gene/MED13 Gene indicated by SFARI as predisposition to autism in the context of a syndromic disorder.
Created: 1 Apr 2019, 11:26 a.m.

Details

Sources
  • Expert Review Amber
  • SFARI
OMIM
603808
Clinvar variants
Variants in MED13
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Apr 2019, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene MED13 were changed from to 20212079; 26185613; 23042784; 24267887; 26166478; 25989142; 24090431; 24581740; 26167905; 23999528; 25294932

29 Mar 2019, Gel status: 2

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Amber was added to MED13. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

29 Mar 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: MED13 was added gene: MED13 was added to Autism. Sources: SFARI Mode of inheritance for gene: MED13 was set to