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Fetal anomalies v0.358 | C5orf42 |
Zornitza Stark changed review comment from: Well established gene-disease associations both with prominent neurological features. More than 10 unrelated families reported with each association. New gene name is CPLANE1.; to: Well established gene-disease associations, structural brain abnormalities. More than 10 unrelated families reported with each association. New gene name is CPLANE1. |
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Fetal anomalies v0.358 | C5orf42 | Zornitza Stark Marked gene: C5orf42 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.358 | C5orf42 | Zornitza Stark Gene: c5orf42 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.358 | C5orf42 | Zornitza Stark Phenotypes for gene: C5orf42 were changed from JOUBERT SYNDROME to Joubert syndrome 17, MIM# 614615; MONDO:0013824; Orofaciodigital syndrome VI, MIM# 277170 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.357 | C5orf42 | Zornitza Stark Tag new gene name tag was added to gene: C5orf42. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.357 | C5orf42 | Zornitza Stark Publications for gene: C5orf42 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.0 | C5orf42 |
Zornitza Stark gene: C5orf42 was added gene: C5orf42 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: C5orf42 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: C5orf42 were set to JOUBERT SYNDROME |