Clefting disorders
Gene: MED12EnsemblGeneIds (GRCh38): ENSG00000184634
EnsemblGeneIds (GRCh37): ENSG00000184634
OMIM: 300188, Gene2Phenotype
MED12 is in 23 panels
2 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7 female individuals (2 previously reported and 5 unpublished) reported with a clinical diagnosis of Hardikar syndrome (rare multiple congenital anomaly syndrome characterized by facial clefting, pigmentary retinopathy,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.Created: 14 Apr 2021, 6:45 a.m. | Last Modified: 14 Apr 2021, 6:45 a.m.
Panel Version: 0.107
Mode of inheritance
Other
Phenotypes
Hardikar syndrome, OMIM #612726
Publications
- PMID: 33244166
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Green
- Phenotypes
-
- Opitz-Kaveggia syndrome, 305450
- Lujan-Fryns syndrome, 309520
- OKS
- submucous cleft palate
- Hardikar syndrome, MIM# 301068
- OMIM
- 300188
- Clinvar variants
- Variants in MED12
- Penetrance
- None
- Publications
- 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 Opitz-Kaveggia syndrome, 305450; Lujan-Fryns syndrome, 309520; OKS; submucous cleft palate; Hardikar syndrome, OMIM #612726 to Opitz-Kaveggia syndrome, 305450; Lujan-Fryns syndrome, 309520; OKS; submucous cleft palate; 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).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: MED12 were changed from Opitz-Kaveggia syndrome, 305450; Lujan-Fryns syndrome, 309520; OKS; submucous cleft palate to Opitz-Kaveggia syndrome, 305450; Lujan-Fryns syndrome, 309520; OKS; submucous cleft palate; Hardikar syndrome, OMIM #612726
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: MED12 were set to 12784307
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
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: MED12 was added gene: MED12 was added to Clefting_GEL. Sources: Expert Review Red Mode of inheritance for gene: MED12 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: MED12 were set to 12784307 Phenotypes for gene: MED12 were set to Opitz-Kaveggia syndrome, 305450; Lujan-Fryns syndrome, 309520; OKS; submucous cleft palate