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Fetal anomalies v0.1423 CHRNE Zornitza Stark Marked gene: CHRNE as ready
Fetal anomalies v0.1423 CHRNE Zornitza Stark Gene: chrne has been classified as Green List (High Evidence).
Fetal anomalies v0.1423 CHRNE Zornitza Stark Classified gene: CHRNE as Green List (high evidence)
Fetal anomalies v0.1423 CHRNE Zornitza Stark Gene: chrne has been classified as Green List (High Evidence).
Fetal anomalies v0.1422 CHRNE Zornitza Stark changed review comment from: Well established association with congenital myasthenia, some individuals reported with arthrogryposis but cannot find specific reports of multiple pterygium syndrome.; to: Well established association with congenital myasthenia, some individuals reported with arthrogryposis.
Fetal anomalies v0.1422 CHRNE Zornitza Stark edited their review of gene: CHRNE: Changed rating: GREEN
Fetal anomalies v0.0 CHRNE Zornitza Stark gene: CHRNE was added
gene: CHRNE was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: CHRNE was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: CHRNE were set to Myasthenic syndrome, congenital, 4A, slow-channel, 605809; Myasthenic syndrome, congenital, 4B, fast-channel, 616324; Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931