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| Clefting v4.78 | UBE3B | Achchuthan Shanmugasundram Classified gene: UBE3B as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting v4.78 | UBE3B | Achchuthan Shanmugasundram Gene: ube3b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting v4.77 | UBE3B |
Achchuthan Shanmugasundram gene: UBE3B was added gene: UBE3B was added to Clefting. Sources: Literature Mode of inheritance for gene: UBE3B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UBE3B were set to 23200864; 23687348; 37010288 Phenotypes for gene: UBE3B were set to Kaufman oculocerebrofacial syndrome, OMIM:244450 Review for gene: UBE3B was set to AMBER Added comment: PMID:23687348 - One of two patients reported with biallelic variants in UBE3B in this study and one of four patients reported in PMID:23200864 and reviewed here had submucous cleft palate. DECIPHER database - One of three patients with homozygous sequence variants in UBE3B had median cleft palate. Sources: Literature |
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