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DDG2P v3.12 UFC1 Achchuthan Shanmugasundram reviewed gene: UFC1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29868776; Phenotypes: Severe early-onset encephalopathy with progressive microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.11 UFC1 Achchuthan Shanmugasundram Mode of pathogenicity for gene UFC1 was changed from to Other
Publications for gene: UFC1 were updated from to 29868776
DDG2P v0.93 UFC1 Rebecca Foulger Added comment: Comment on mode of inheritance: No MOI is given in DDG2P for UFC1 Disease: Severe early-onset encephalopathy with progressive microcephaly. Set MOI to 'biallelic' to match OMIM 'Neurodevelopmental disorder with spasticity and poor growth, 618076'.
DDG2P v0.93 UFC1 Rebecca Foulger Mode of inheritance for gene: UFC1 was changed from to BIALLELIC, autosomal or pseudoautosomal
DDG2P v0.2 UFC1 Rebecca Foulger reviewed gene: UFC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.1 UFC1 Rebecca Foulger gene: UFC1 was added
gene: UFC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: UFC1 was set to
Phenotypes for gene: UFC1 were set to Severe early-onset encephalopathy with progressive microcephaly