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| Hand and foot malformations v0.58 | UBA2 | Zornitza Stark Marked gene: UBA2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hand and foot malformations v0.58 | UBA2 | Zornitza Stark Gene: uba2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hand and foot malformations v0.58 | UBA2 | Zornitza Stark Classified gene: UBA2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hand and foot malformations v0.58 | UBA2 | Zornitza Stark Gene: uba2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hand and foot malformations v0.57 | UBA2 |
Zornitza Stark gene: UBA2 was added gene: UBA2 was added to Hand and foot malformations. Sources: Expert Review Mode of inheritance for gene: UBA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: UBA2 were set to 31332306; 31587267; 34159400 Phenotypes for gene: UBA2 were set to ACCES syndrome, MIM# 619959; Split-Hand/Foot Malformation; Aplasia Cutis Congenita; Ectrodactyly Review for gene: UBA2 was set to GREEN Added comment: 2x unrelated probands with isolated split hand malformation. fs variants - 1x de novo and 1x inherited from apparent unaffected mother (no radiographs of her hand available) 1x proband with unilateral split-hand malformation (missense). Her daughter and grandson reported to have ectrofactyly but were unavailable for testing Sources: Expert Review |
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