Activity
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5 actions
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| Congenital diaphragmatic hernia v1.16 | MED12 | Zornitza Stark Marked gene: MED12 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital diaphragmatic hernia v1.16 | MED12 | Zornitza Stark Gene: med12 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital diaphragmatic hernia v1.16 | MED12 | Chirag Patel Classified gene: MED12 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital diaphragmatic hernia v1.16 | MED12 | Chirag Patel Gene: med12 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital diaphragmatic hernia v1.15 | MED12 |
Chirag Patel 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 Added comment: 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: Literature |
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