| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Fetal anomalies v0.2749 | MED25 | Zornitza Stark Marked gene: MED25 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2749 | MED25 | Zornitza Stark Gene: med25 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2749 | MED25 | Zornitza Stark Classified gene: MED25 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2749 | MED25 | Zornitza Stark Gene: med25 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2729 | MED25 |
Krithika Murali gene: MED25 was added gene: MED25 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: MED25 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MED25 were set to 25792360; 32816121; 32816121; 32324310 Phenotypes for gene: MED25 were set to multiple congenital anomalies; congenital heart defects; hypospadias, thin corpus callosum, cerebral ventricular dilatation; Basel-Vanagait-Smirin-Yosef syndrome - #616449; Congenital cataract-microcephaly-naevus flammeus syndrome MONDO:0014643 Review for gene: MED25 was set to GREEN Added comment: Multiple individuals reported - biallelic variants associated with severe syndromic neurodevelopmental disorder diagnosed from infancy. PMID 32324310 - report one patient with antenatal ultrasound demonstrating cleft lip and clenched hands. Additional features associated wtih this condition that may be diagnosed antenatally include cleft palate, cardiac septal defects, hypospadias, polymicrogyria, thin corpus callosum, microcephaly and cerebral ventricular dilatation. Sources: Literature |
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