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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