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Intellectual disability syndromic and non-syndromic

Gene: MED22

Amber List (moderate evidence)

MED22 (mediator complex subunit 22)
EnsemblGeneIds (GRCh38): ENSG00000148297
EnsemblGeneIds (GRCh37): ENSG00000148297
OMIM: 185641, Gene2Phenotype
MED22 is in 2 panels

1 review

Mark Cleghorn (Royal Melbourne Hospital)

I don't know

ESHG talk 2/6/24, unpublished
Elisa Cali, UCL

Recurrent homozygous MED22:c.397_399del (p.Glu133del) inframe variant in 8 individuals from 6 families w progressive NDD, microcepahly, cerebellar atrophy, dystonia, seizures

Rare in gnomad v4.1 (9 het alleles, no homozygotes)

Functional work on patient fibroblasts: quantity of protein comparable to controls, did not mentioned assays of protein function (?mechanism proposed)
Drosophilia heterozygous model with equivalent of p.Glu133del variant: structural anomalies, less movements, all died prior to pupae stage
Zebrafish: MED22 mutants less mobile, died prior to adulthood, reduced brain size
Sources: Other
Created: 5 Sep 2024, 1:29 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
complex neurodevelopmental disorder MONDO:0100038

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • complex neurodevelopmental disorder MONDO:0100038
OMIM
185641
Clinvar variants
Variants in MED22
Penetrance
unknown
Panels with this gene

History Filter Activity

5 Sep 2024, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: med22 has been classified as Amber List (Moderate Evidence).

5 Sep 2024, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: med22 has been classified as Amber List (Moderate Evidence).

5 Sep 2024, Gel status: 0

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

Mark Cleghorn (Royal Melbourne Hospital)

gene: MED22 was added gene: MED22 was added to Intellectual disability syndromic and non-syndromic. Sources: Other Mode of inheritance for gene: MED22 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MED22 were set to complex neurodevelopmental disorder MONDO:0100038 Penetrance for gene: MED22 were set to unknown Review for gene: MED22 was set to AMBER