| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Fetal anomalies v0.4530 | TAOK1 | Zornitza Stark Marked gene: TAOK1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4530 | TAOK1 | Zornitza Stark Gene: taok1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4530 | TAOK1 | Zornitza Stark Classified gene: TAOK1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4530 | TAOK1 | Zornitza Stark Gene: taok1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4404 | TAOK1 |
Krithika Murali gene: TAOK1 was added gene: TAOK1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: TAOK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TAOK1 were set to 35091509; 31230721; 33565190 Phenotypes for gene: TAOK1 were set to Developmental delay with or without intellectual impairment or behavioral abnormalities - MIM#619575 Review for gene: TAOK1 was set to GREEN Added comment: Heterozygous TAOK1 variants associated with developmental delay PMID 35091509 - complication of polyhydramnios noted in 2 pregnancies in unrelated families PMID 33565190: - 1 patient with ventriculomegaly detected 28 week USS and polyhydramnios with secondary complication of multi-suture craniosynostosis - 1 infant with low birth weight. - 1 individual - antenatal history includes polyhydramnios at 5 months gestation PMID 31230721 - report one individual noted to be macrocephalic at birth with cleft palate Sources: Literature |
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