| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Fetal anomalies v0.421 | CEP152 | Zornitza Stark Marked gene: CEP152 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.421 | CEP152 | Zornitza Stark Gene: cep152 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.421 | CEP152 | Zornitza Stark Phenotypes for gene: CEP152 were changed from SECKEL SYNDROME TYPE 5; MICROCEPHALY PRIMARY TYPE 4 to Microcephaly 9, primary, autosomal recessive, MIM# 614852; MONDO:0013923; Seckel syndrome 5, MIM# 613823; MONDO:0013443 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.420 | CEP152 | Zornitza Stark Publications for gene: CEP152 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.419 | CEP152 | Zornitza Stark changed review comment from: Bi-allelic variants in this gene have been reported in both primary microcephaly (-5-7 SD) and in Seckel syndrome, at least 3 of each. ID is a feature of both disorders. Gene encodes centriole protein.; to: Bi-allelic variants in this gene have been reported in both primary microcephaly (-5-7 SD) and in Seckel syndrome, at least 3 of each. Gene encodes centriole protein. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | CEP152 |
Zornitza Stark gene: CEP152 was added gene: CEP152 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: CEP152 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CEP152 were set to SECKEL SYNDROME TYPE 5; MICROCEPHALY PRIMARY TYPE 4 |
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