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Childhood onset dystonia, chorea or related movement disorder v0.7 RPGRIP1L Ellen McDonagh Source PanelApp was added to RPGRIP1L.
Mode of inheritance for gene RPGRIP1L was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Joubert syndrome 7; Joubert syndrome; Meckel-Gruber syndrome; Meckel syndrome 5; Meckel syndrome for gene: RPGRIP1L
Publications for gene RPGRIP1L were changed from to 17558409; 17558407; 19574260
Childhood onset dystonia, chorea or related movement disorder v0.0 RPGRIP1L Ellen McDonagh gene: RPGRIP1L was added
gene: RPGRIP1L was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: RPGRIP1L was set to