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Mendeliome

Gene: MED13L

Green List (high evidence)

MED13L (mediator complex subunit 13 like)
EnsemblGeneIds (GRCh38): ENSG00000123066
EnsemblGeneIds (GRCh37): ENSG00000123066
OMIM: 608771, Gene2Phenotype
MED13L is in 11 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Comment when marking as ready: The evidence for isolated CHD much less compelling than the association with a neurodevelopmental syndrome.
Created: 17 Apr 2020, 8:10 a.m. | Last Modified: 17 Apr 2020, 8:10 a.m.
Panel Version: 0.2313

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

- Pathogenic variants are usually de novo

- Patients with a missense variant more frequently have epilepsy and showed a more severe phenotype (PMID 29511999)

- Onset for ID condition is at infancy. Incomplete penetrance reported for cardiac-related phenotype only (OMIM)
Created: 17 Apr 2020, 6:21 a.m. | Last Modified: 17 Apr 2020, 6:21 a.m.
Panel Version: 0.2305

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Mental retardation and distinctive facial features with or without cardiac defects 616789; Transposition of the great arteries, dextro-looped 1 608808

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mental retardation and distinctive facial features with or without cardiac defects 616789
  • Transposition of the great arteries, dextro-looped 1 608808
OMIM
608771
Clinvar variants
Variants in MED13L
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: med13l has been classified as Green List (High Evidence).

17 Apr 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MED13L were changed from to Mental retardation and distinctive facial features with or without cardiac defects 616789; Transposition of the great arteries, dextro-looped 1 608808

17 Apr 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MED13L were set to

17 Apr 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: MED13L was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MED13L was added gene: MED13L was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: MED13L was set to Unknown