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Dystonia, chorea or related movement disorder, childhood onset v1.264 SUFU Arina Puzriakova Phenotypes for gene: SUFU were changed from Joubert syndrome 32, 617757 to Joubert syndrome 32, OMIM:617757
Dystonia, chorea or related movement disorder, childhood onset v0.7 SUFU Ellen McDonagh Source PanelApp was added to SUFU.
Mode of inheritance for gene SUFU was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Joubert syndrome 32, 617757 for gene: SUFU
Dystonia, chorea or related movement disorder, childhood onset v0.0 SUFU Ellen McDonagh gene: SUFU was added
gene: SUFU was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SUFU was set to