Polymicrogyria and Schizencephaly
Gene: MED25EnsemblGeneIds (GRCh38): ENSG00000104973
EnsemblGeneIds (GRCh37): ENSG00000104973
OMIM: 610197, Gene2Phenotype
MED25 is in 10 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
PMG reported in 3 of 22 affected individuals in a recent review of published cases.Created: 6 Oct 2020, 1:49 a.m. | Last Modified: 6 Oct 2020, 1:49 a.m.
Panel Version: 0.146
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Basel-Vanagait-Smirin-Yosef syndrome, MIM# 616449
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Basel-Vanagait-Smirin-Yosef syndrome, MIM# 616449
- OMIM
- 610197
- Clinvar variants
- Variants in MED25
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: med25 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: MED25 were changed from OMIM#616449 to Basel-Vanagait-Smirin-Yosef syndrome, MIM# 616449
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: med25 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Chloe Stutterd (Victorian Clinical Genetics Services)gene: MED25 was added gene: MED25 was added to Polymicrogyria and Schizencephaly. Sources: Literature Mode of inheritance for gene: MED25 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MED25 were set to 32324310; 32816121 Phenotypes for gene: MED25 were set to OMIM#616449 Review for gene: MED25 was set to AMBER