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Fetal anomalies v0.4330 | CEP85L | Zornitza Stark Marked gene: CEP85L as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.4330 | CEP85L | Zornitza Stark Gene: cep85l has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.4330 | CEP85L | Zornitza Stark Classified gene: CEP85L as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.4330 | CEP85L | Zornitza Stark Gene: cep85l has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.4329 | CEP85L | Zornitza Stark reviewed gene: CEP85L: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Lissencephaly 10, posterior predominant (MIM618873); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.4273 | CEP85L |
Daniel Flanagan gene: CEP85L was added gene: CEP85L was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: CEP85L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CEP85L were set to 32097630 Phenotypes for gene: CEP85L were set to Lissencephaly 10, posterior predominant (MIM618873) Review for gene: CEP85L was set to RED Added comment: Thirteen individuals reported with mono allelic variants in this gene, inherited in two of the families. Mouse model had neuronal migration defects. Earliest symptom onset 5 months, most develop seizures after several years. Sources: Expert list |