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  3. MED13L
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Fetal anomalies

Gene: MED13L

Green List (high evidence)
MED13L (mediator complex subunit 13 like)
EnsemblGeneIds (GRCh38): ENSG00000123066
EnsemblGeneIds (GRCh37): ENSG00000123066
OMIM: 608771, Gene2Phenotype
MED13L is in 8 panels

3 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Created: 30 Jan 2023, 4:26 p.m. | Last Modified: 30 Jan 2023, 4:26 p.m.
Panel Version: 2.10
Comment on list classification: Following clinical review, it was agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update.
Created: 9 Aug 2022, 12:51 p.m. | Last Modified: 9 Aug 2022, 12:51 p.m.
Panel Version: 1.881
Created: 9 Aug 2022, 12:51 p.m.
Last Modified: 9 Aug 2022, 12:51 p.m.
Panel version: 2.10

Rhiannon Mellis (Great Ormond Street Hospital)

Green List (high evidence)

This gene and phenotype were reviewed during a meeting on 21st July 2022 between representatives of the North Thames and Central & South R21 testing GLHs.
Clinical review and curation was performed by Lyn Chitty, Alison Male, Rhiannon Mellis (North Thames GLH), and Stephanie Allen, Denise Williams, Esther Kinning and Anna de Burca (Central & South GLH).

Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.

Already rated Green on the following other PanelApp panel(s): Intellectual disability

Details of review: Two reported fetal cases with MED13L variants identified on prenatal exome sequencing after presentation with fetal anomalies. The fetal case in Qiao et al 2021 PMID: 33142350 had ASD and talipes. The fetal case in Rinaldi et al PMID: 32058062 had Left CDH and ambiguous genitalia (PM: Lung hypoplasia, micropenis, hypoplastic scrotum, intraabdominal testis, FFO). No other fetal cases in the literature to our knowledge but OMIM describes 3 or more unrelated paediatric cases with congenital heart defects including TGA, Tetralogy of Fallot and TAPVD, which would be detectable on prenatal ultrasound.
Created: 1 Aug 2022, 5:07 p.m. | Last Modified: 1 Aug 2022, 5:07 p.m.
Panel Version: 1.880

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Intellectual disability; dysmorphic features; congenital heart malformations; talipes

Publications

Created: 1 Aug 2022, 5:07 p.m.
Last Modified: 1 Aug 2022, 5:07 p.m.
Panel version: 1.880

Rebecca Foulger (Genomics England curator)

I don't know

DDG2P rating in original PAGE list: Probable for INTELLECTUAL DISABILITY
Created: 11 Dec 2018, 9:05 a.m.
Created: 11 Dec 2018, 9:05 a.m.

Panel version: 0.9

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Impaired intellectual development and distinctive facial features with or without cardiac defects, OMIM:616789
OMIM
608771
Clinvar variants
Variants in MED13L
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Jan 2023, Gel status: 3

Removed Tag, Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q3_22_rating was removed from gene: MED13L. Tag Q3_22_NHS_review was removed from gene: MED13L.

30 Jan 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to MED13L. Source NHS GMS was added to MED13L. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

9 Aug 2022, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: MED13L were set to

9 Aug 2022, Gel status: 2

Added Tag, Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q3_22_rating tag was added to gene: MED13L. Tag Q3_22_NHS_review tag was added to gene: MED13L.

9 Aug 2022, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: MED13L were changed from INTELLECTUAL DISABILITY to Impaired intellectual development and distinctive facial features with or without cardiac defects, OMIM:616789

9 Aug 2022, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: med13l has been classified as Amber List (Moderate Evidence).

8 Nov 2018, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: MED13L was added gene: MED13L was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: MED13L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MED13L were set to INTELLECTUAL DISABILITY