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Intellectual disability syndromic and non-syndromic

Gene: MED13

Green List (high evidence)

MED13 (mediator complex subunit 13)
EnsemblGeneIds (GRCh38): ENSG00000108510
EnsemblGeneIds (GRCh37): ENSG00000108510
OMIM: 603808, Gene2Phenotype
MED13 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

11 unrelated individuals an a mother/daughter pair reported with variants in this gene, variable ID, speech apraxia, ADHD, autism.
Created: 7 Mar 2020, 7:05 a.m. | Last Modified: 7 Mar 2020, 7:05 a.m.
Panel Version: 0.2433

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Intellectual developmental disorder 61, MIM# 618009

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Intellectual developmental disorder 61, MIM# 618009
OMIM
603808
Clinvar variants
Variants in MED13
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: med13 has been classified as Green List (High Evidence).

7 Mar 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MED13 were changed from to Intellectual developmental disorder 61, MIM# 618009

7 Mar 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MED13 were set to

7 Mar 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: MED13 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MED13 was added gene: MED13 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MED13 was set to Unknown