Retinal disorders
Gene: MED12EnsemblGeneIds (GRCh38): ENSG00000184634
EnsemblGeneIds (GRCh37): ENSG00000184634
OMIM: 300188, Gene2Phenotype
MED12 is in 12 panels
2 reviews
Ivone Leong (Genomics England Curator)
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 8 Mar 2022, 10:43 a.m. | Last Modified: 8 Mar 2022, 10:43 a.m.
Panel Version: 2.245
Eleanor Williams (Genomics England Curator)
Comment on mode of inheritance: X-linked hemizygous mutation in males, monoallelic mutations in females is the appropriate mode of inheritance for Hardikar syndrome but there are carrier implications for the male-only phenotypes associated with this gene (e.g. Lujan-Fryns syndrome, Ohdo syndrome, X-linked and Opitz-Kaveggia syndrome) in female cases.Created: 28 Sep 2021, 11:10 a.m. | Last Modified: 28 Sep 2021, 11:10 a.m.
Panel Version: 2.216
Comment on list classification: Promoting this gene from red to amber, but with a recommendation for green rating following GMS review. 5 cases reported with a retinal phenotype and likely disease causing variants in MED12.Created: 28 Sep 2021, 11:10 a.m. | Last Modified: 28 Sep 2021, 11:10 a.m.
Panel Version: 2.215
Zorntiza Stark reviewed this gene on the Clefting panel. Li et al 2021 (PMID: 33244166) report 7 females with Hardikar syndrome each of whom have had a nonsense or frameshift MED12 variant identified by exome sequencing. All five tested patients showed evidence of skewed x chromosome inactivation. 5 of the patients are reported to have a retinal phenotype (retinal rarefaction, pigmentary retinopathy, cat’s paw retinal pigmentation).
Hardikar syndrome is noted for the preserved neurodevelopment in patients unlike the other disorders associated with this gene.
Sources: LiteratureCreated: 28 Sep 2021, 11:08 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Hardikar syndrome, OMIM:612726; cholestasis-pigmentary retinopathy-cleft palate syndrome, MONDO:0012997
Publications
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Hardikar syndrome, OMIM:612726
- cholestasis-pigmentary retinopathy-cleft palate syndrome, MONDO:0012997
- Tags
- OMIM
- 300188
- Clinvar variants
- Variants in MED12
- Penetrance
- None
- Publications
- Panels with this gene
-
- Non-syndromic familial congenital anorectal malformations
- Thoracic aortic aneurysm or dissection (GMS)
- Retinal disorders
- DDG2P
- Thoracic aortic aneurysm or dissection
- Arthrogryposis
- Ehlers Danlos syndrome with a likely monogenic cause
- Early onset or syndromic epilepsy
- Fetal anomalies
- Clefting
- Familial Hirschsprung Disease
- Intellectual disability
History Filter Activity
Removed Tag, Removed Tag, Removed Tag
Ivone Leong (Genomics England Curator)Tag Q3_21_MOI was removed from gene: MED12. Tag Q3_21_rating was removed from gene: MED12. Tag Q3_21_expert_review was removed from gene: MED12.
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Green was added to MED12. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Added Tag
Eleanor Williams (Genomics England Curator)Tag Q3_21_MOI tag was added to gene: MED12.
Added Tag
Eleanor Williams (Genomics England Curator)Tag Skewed X-inactivation tag was added to gene: MED12.
Added Tag
Eleanor Williams (Genomics England Curator)Tag Q3_21_rating tag was added to gene: MED12.
Set mode of inheritance
Eleanor Williams (Genomics England Curator)Mode of inheritance for gene: MED12 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: med12 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: MED12 was added gene: MED12 was added to Retinal disorders. Sources: Literature Q3_21_expert_review tags were added to gene: MED12. Mode of inheritance for gene: MED12 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: MED12 were set to 33244166 Phenotypes for gene: MED12 were set to Hardikar syndrome, OMIM:612726; cholestasis-pigmentary retinopathy-cleft palate syndrome, MONDO:0012997 Review for gene: MED12 was set to GREEN