| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Macrocephaly_Megalencephaly v0.54 | KPTN | Zornitza Stark Marked gene: KPTN as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.54 | KPTN | Zornitza Stark Gene: kptn has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.54 | KPTN | Zornitza Stark Classified gene: KPTN as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.54 | KPTN | Zornitza Stark Gene: kptn has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.53 | KPTN |
Zornitza Stark gene: KPTN was added gene: KPTN was added to Macrocephaly_Megalencephaly. Sources: Expert Review Mode of inheritance for gene: KPTN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KPTN were set to 24239382; 32358097; 32808430 Phenotypes for gene: KPTN were set to Mental retardation, autosomal recessive 41 (MIM#615637) Review for gene: KPTN was set to GREEN Added comment: 15 patients (9 from Amish families) reported with macrocephaly and intellectual disability with hom or chet variants in KPTN (PMID: 32808430). Sources: Expert Review |
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