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| Syndromic Retinopathy v0.183 | MED12 | Zornitza Stark Phenotypes for gene: MED12 were changed from Hardikar syndrome, OMIM #612726 to Hardikar syndrome, MIM# 301068 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Syndromic Retinopathy v0.182 | MED12 | Zornitza Stark reviewed gene: MED12: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hardikar syndrome, MIM# 301068; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Syndromic Retinopathy v0.163 | MED12 | Zornitza Stark Marked gene: MED12 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Syndromic Retinopathy v0.163 | MED12 | Zornitza Stark Gene: med12 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Syndromic Retinopathy v0.163 | MED12 | Chirag Patel Classified gene: MED12 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Syndromic Retinopathy v0.163 | MED12 | Chirag Patel Gene: med12 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Syndromic Retinopathy v0.162 | MED12 |
Chirag Patel 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OMIM #612726 Review for gene: MED12 was set to GREEN Added comment: 7 female individuals (2 previously reported and 5 unpublished) reported with a clinical diagnosis of Hardikar syndrome (rare multiple congenital anomaly syndrome characterized by facial clefting, pigmentary retinopathy,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: Literature |
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