| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Limb disorders v0.272 | UBE3B |
Eleanor Williams Source Expert Review Amber was added to UBE3B. Mode of inheritance for gene UBE3B was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Kaufman oculocerebrofacial syndrome 244450 for gene: UBE3B Publications for gene UBE3B were changed from to 23200864 Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v0.270 | UBE3B | Ellen McDonagh reviewed gene: UBE3B: Rating: AMBER; Mode of pathogenicity: ; Publications: 23200864; Phenotypes: Kaufman oculocerebrofacial syndrome 244450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders | UBE3B | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||