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Gene: MED25

Green List (high evidence)
MED25 (mediator complex subunit 25)
EnsemblGeneIds (GRCh38): ENSG00000104973
EnsemblGeneIds (GRCh37): ENSG00000104973
OMIM: 610197, Gene2Phenotype
MED25 is in 10 panels

1 review

Marta Cifuentes Ochoa (Victorian Clinical Genetics Services)

Green List (high evidence)

Autosomal recessive multiple congenital anomaly disorder characterized by severely delayed psychomotor development resulting in intellectual disability, as well as variable eye, brain, cardiac, and palatal abnormalities.

HGNC approved symbol/name: MED25
Is the phenotype(s) severe and onset <18yo? Y

Homozygous p.A335V mutation in the MED25 gene causes CMT2B2 (PMID: 19290556)
Created: 12 Dec 2024, 2:56 a.m. | Last Modified: 12 Dec 2024, 2:56 a.m.
Panel Version: 1.722

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Basel-Vanagait-Smirin-Yosef syndrome, MIM# 616449; congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome MONDO:0014643

Publications

Created: 12 Dec 2024, 2:56 a.m.
Last Modified: 12 Dec 2024, 2:56 a.m.
Panel version: 1.722

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Basel-Vanagait-Smirin-Yosef syndrome, MIM# 616449
  • congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome MONDO:0014643
OMIM
610197
Clinvar variants
Variants in MED25
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Dec 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: med25 has been classified as Green List (High Evidence).

13 Dec 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MED25 were changed from Basel-Vanagait-Smirin-Yosef syndrome, 616449 (3) to Basel-Vanagait-Smirin-Yosef syndrome, MIM# 616449; congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome MONDO:0014643

13 Dec 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MED25 were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MED25 was added gene: MED25 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: MED25 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MED25 were set to Basel-Vanagait-Smirin-Yosef syndrome, 616449 (3)