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| DDG2P v6.402 | UFC1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: UFC1 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | UFC1 | Achchuthan Shanmugasundram edited their review of gene: UFC1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for UFC1-related severe early-onset encephalopathy with progressive microcephaly are definitive, biallelic_autosomal and undetermined (PMID:29868776). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02544.; Changed phenotypes to: MONDO:0060752, UFC1-related severe early-onset encephalopathy with progressive microcephaly, OMIM:618076.0, Severe early-onset encephalopathy with progressive microcephaly | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 |
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| 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 |
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