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Gene: MED23

Green List (high evidence)
MED23 (mediator complex subunit 23)
EnsemblGeneIds (GRCh38): ENSG00000112282
EnsemblGeneIds (GRCh37): ENSG00000112282
OMIM: 605042, Gene2Phenotype
MED23 is in 4 panels

1 review

Andrew Coventry (Victorian Clinical Genetics Services)

Green List (high evidence)

Intellectual developmental disorder, autosomal recessive 18, with or without epilepsy is a syndromic intellectual disability, including early onset epilepsy, spasticity, microcephaly and, less frequently, delayed myelination and thin corpus callosum. Variants in MED23 have been reported in at least 11 affected individuals from at least 6 unrelated families. Congenital/early onset. Functional studies and animal models present. Variants reported include nonsense and missense.
Created: 7 Feb 2025, 3:49 a.m. | Last Modified: 7 Feb 2025, 3:50 a.m.
Panel Version: 1.1460

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intellectual developmental disorder, autosomal recessive 18, with or without epilepsy MIM#614249

Publications

Created: 7 Feb 2025, 3:49 a.m.
Last Modified: 7 Feb 2025, 3:50 a.m.
Panel version: 1.1460

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Intellectual developmental disorder, autosomal recessive 18, with or without epilepsy MIM#614249
OMIM
605042
Clinvar variants
Variants in MED23
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Feb 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: med23 has been classified as Green List (High Evidence).

7 Feb 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MED23 were changed from Mental retardation, autosomal recessive 18, 614249 (3) to Intellectual developmental disorder, autosomal recessive 18, with or without epilepsy MIM#614249

7 Feb 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MED23 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: MED23 was added gene: MED23 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: MED23 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MED23 were set to Mental retardation, autosomal recessive 18, 614249 (3)