UNC50

Panel	Reviews	Mode of inheritance	Details
Filter panels 4 panels
Amber UNC50 in Arthrogryposis Level 2: Neurology and neurodevelopmental disorders Version 0.419 Component of the following Super Panels: Neuromuscular Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Arthrogryposis multiplex congenita MONDO:0015168
Amber UNC50 in Mendeliome Version 1.2656	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes arthrogryposis multiplex congenita MONDO:0015168 congenital myasthenic syndrome MONDO:0018940
Amber UNC50 in Congenital Myasthenia Level 2: Neurology and neurodevelopmental disorders Version 1.12 Component of the following Super Panels: Neuromuscular Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes arthrogryposis multiplex congenita MONDO:0015168 congenital myasthenic syndrome MONDO:0018940
Amber UNC50 in Fetal anomalies Version 1.370	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Expert list Phenotypes Arthrogryposis multiplex congenita

4 panels