| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Fetal anomalies v0.4309 | CENPE | Zornitza Stark Marked gene: CENPE as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4309 | CENPE | Zornitza Stark Gene: cenpe has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4309 | CENPE | Zornitza Stark Classified gene: CENPE as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4309 | CENPE | Zornitza Stark Gene: cenpe has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4266 | CENPE |
Ain Roesley gene: CENPE was added gene: CENPE was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: CENPE was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CENPE were set to 24748105; 30086807 Phenotypes for gene: CENPE were set to Microcephaly 13, primary, autosomal recessive (MIM#616051) Review for gene: CENPE was set to RED gene: CENPE was marked as current diagnostic Added comment: PMID: 24748105; - 2 siblings from non-consanguineous family of European descent - patient A: at birth, OFC of -5SD which progressed to -9SD at 5 years of age - patient B: no measurement at birth but OFC was -7SD at 3 years of age - cHet for 2 missense *no new reports since. A review of AR primary microcephaly in 2018 still states just 1 family (PMID: 30086807) Sources: Literature |
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