| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| DDG2P v3.12 | PUS3 | Achchuthan Shanmugasundram reviewed gene: PUS3: Rating: GREEN; Mode of pathogenicity: ; Publications: 30697592, 32056211, 34415064, 31444731, 30308082, 27055666; Phenotypes: PUS3-associated neurodevelopmental disorder with microcephaly and gray sclerae; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PUS3 |
Achchuthan Shanmugasundram gene: PUS3 was added gene: PUS3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PUS3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PUS3 were set to 30697592; 32056211; 34415064; 31444731; 30308082; 27055666 Phenotypes for gene: PUS3 were set to PUS3-associated neurodevelopmental disorder with microcephaly and gray sclerae |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||