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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 11 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Though CHD is an inconsistent feature, sufficient proportion/numbers reported for Green rating on this panel.
Created: 20 Jan 2022, 10:15 p.m. | Last Modified: 20 Jan 2022, 10:15 p.m.
Panel Version: 0.2619

Phenotypes
Impaired intellectual development and distinctive facial features with or without cardiac defects MIM#616789

Ain Roesley (Victorian Clinical Genetics Services)

I don't know

well-established gene disease association.

CHD reported in 12/64 individuals, brachycephaly in 7/33, IUGR in a handful of isolated cases
Created: 17 Jan 2022, 3:07 a.m. | Last Modified: 17 Jan 2022, 3:07 a.m.
Panel Version: 0.2352

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Impaired intellectual development and distinctive facial features with or without cardiac defects MIM#616789

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
  • Genomics England PanelApp
Phenotypes
  • Impaired intellectual development and distinctive facial features with or without cardiac defects MIM#616789
OMIM
608771
Clinvar variants
Variants in MED13L
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Jan 2022, 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).

20 Jan 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

20 Jan 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MED13L were set to

20 Jan 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

20 Jan 2022, 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).

24 Oct 2021, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MED13L was added gene: MED13L was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp 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