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Intellectual disability syndromic and non-syndromic

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

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Classified MODERATE by ClinGen ID and Autism GCEP on 01/04/2020 - https://search.clinicalgenome.org/CCID:005365

There are affected individuals from 4 unrelated families reported with consistent phenotypes with homozygous or compound heterozygous variants in MED23.
Created: 17 May 2024, 12:56 a.m. | Last Modified: 17 May 2024, 12:56 a.m.
Panel Version: 0.5821

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
syndromic intellectual disability MONDO:0000508

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • syndromic intellectual disability MONDO:0000508
OMIM
605042
Clinvar variants
Variants in MED23
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 May 2024, 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).

20 May 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MED23 were changed from to syndromic intellectual disability MONDO:0000508

20 May 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MED23 were set to

20 May 2024, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: MED23 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MED23 was added gene: MED23 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MED23 was set to Unknown