Congenital diaphragmatic hernia
Gene: MED12EnsemblGeneIds (GRCh38): ENSG00000184634
EnsemblGeneIds (GRCh37): ENSG00000184634
OMIM: 300188, Gene2Phenotype
MED12 is in 23 panels
1 review
Chirag Patel (Genetic Health Queensland)
MED12-related disorders include:
1) X-linked recessive Opitz-Kaveggia syndrome, Lujan-Fryns syndrome, Ohdo syndrome, and nonspecific intellectual disability in males predominantly carrying missense variants
2) X-linked dominant Hardikar syndrome and nonspecific intellectual disability in females known to predominantly carry de novo nonsense/frameshift and nonsense/missense variants, respectively.
Paper reviews occurrence of congenital diaphragmatic hernia in 18 individuals with molecularly confirmed MED12 mutation on WES/WGS. They report CDH in 3/7 females with Hardikar syndrome or nonspecific intellectual disability, but no CDH in 11 males with MED12-related disorders.
Sources: LiteratureCreated: 5 Sep 2024, 1:24 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
MED12-related disorders; Hardikar syndrome, OMIM # 301068
Publications
- PMID: 39215511
Variants in this GENE are reported as part of current diagnostic practice
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
-
- MED12-related disorders
- Hardikar syndrome, OMIM # 301068
- OMIM
- 300188
- Clinvar variants
- Variants in MED12
- Penetrance
- None
- Publications
-
- PMID: 39215511
- 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
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 Congenital diaphragmatic hernia. Sources: Literature 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 PMID: 39215511 Phenotypes for gene: MED12 were set to MED12-related disorders; Hardikar syndrome, OMIM # 301068 Review for gene: MED12 was set to GREEN gene: MED12 was marked as current diagnostic