Syndromic Retinopathy
Gene: MED12EnsemblGeneIds (GRCh38): ENSG00000184634
EnsemblGeneIds (GRCh37): ENSG00000184634
OMIM: 300188, Gene2Phenotype
MED12 is in 23 panels
3 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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, MIM# 301068
Chirag Patel (Genetic Health Queensland)
7 female individuals (2 previously reported and 5 unpublished) reported with a clinical diagnosis of Hardikar syndrome (rare multiple congenital anomaly syndrome characterized by facial clefting, pigmentary retinopathy, biliary anomalies, hydronephrosis, and intestinal malrotation, but normal cognition).
Exome sequencing identified de novo pathogenic nonsense and frameshift variants in MED12 in all 7 individuals. Evidence of extremely skewed XCI in all patients with informative testing. No functional assays.
Note: pathogenic missense variants in MED12 associated with Opitz-Kaveggia syndrome, Lujan syndrome, Ohdo syndrome, and nonsyndromic intellectual disability, primarily in males
Sources: LiteratureCreated: 14 Apr 2021, 6:43 a.m.
Mode of inheritance
Other
Phenotypes
Hardikar syndrome, OMIM #612726
Publications
- PMID: 33244166
Elena Savva (Victorian Clinical Genetics Services)
- There's no clear geno-pheno correlation. Missense can cause any of the phenos (FGS1, LS, Ohdo and nonsyndromic ID; Charzewska 2018).
- de novo PTCs cause female-specific Hardikar syndrome, very skewed X inactivation (Li, 2020)
- Several affected female carriers have been reported: usually with milder clinical manifestation, several families showed skewed X-chr inactivation pattern in affected female carriers (Wang 2020). However some families had no correlation between clinical outcome and X-chr inactivation in the blood samples (Charzewska 2018, Prontera 2016).Created: 23 Mar 2021, 4:42 a.m. | Last Modified: 23 Mar 2021, 4:42 a.m.
Panel Version: 0.6863
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
Ohdo syndrome, X-linked MIM#300895; Lujan-Fryns syndrome MIM#309520; Opitz-Kaveggia syndrome MIM#305450
Publications
Details
- Mode of Inheritance
- Other
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Hardikar syndrome, MIM# 301068
- OMIM
- 300188
- Clinvar variants
- Variants in MED12
- Penetrance
- None
- Publications
-
- PMID: 33244166
- Panels with this gene
-
- Overgrowth
- Mackenzie's Mission_Reproductive Carrier Screening
- Clefting disorders
- Prepair 1000+
- Liver Failure_Paediatric
- Blepharophimosis
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Bleeding and Platelet Disorders
- Transplant Co-Morbidity Superpanel
- Genetic Epilepsy
- Macrocephaly_Megalencephaly
- Fetal anomalies
- Additional findings_Paediatric
- Congenital Heart Defect
- Arthrogryposis
- Mendeliome
- Congenital diaphragmatic hernia
- Aortopathy_Connective Tissue Disorders
- Syndromic Retinopathy
- Prepair 500+
- Callosome
- Cerebral Palsy
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: MED12 were changed from Hardikar syndrome, OMIM #612726 to Hardikar syndrome, MIM# 301068
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: med12 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: med12 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Chirag Patel (Genetic Health Queensland)gene: MED12 was added gene: MED12 was added to Syndromic Retinopathy. Sources: Literature Mode of inheritance for gene: MED12 was set to Other Publications for gene: MED12 were set to PMID: 33244166 Phenotypes for gene: MED12 were set to Hardikar syndrome, OMIM #612726 Review for gene: MED12 was set to GREEN