Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DDG2P v3.12 | CSTB | Achchuthan Shanmugasundram reviewed gene: CSTB: Rating: GREEN; Mode of pathogenicity: ; Publications: 9012407, 8596935, 9342192, 15329070; Phenotypes: UNVERRICHT-LUNDBORG DISEASE, OMIM:254800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.11 | CSTB | Achchuthan Shanmugasundram Publications for gene: CSTB were updated from 9012407; 15329070; 9342192; 8596935 to 9012407; 8596935; 9342192; 15329070 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v2.52 | CSTB | Arina Puzriakova Tag nucleotide-repeat-expansion tag was added to gene: CSTB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.2 | CSTB | Rebecca Foulger reviewed gene: CSTB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.1 | CSTB |
Rebecca Foulger gene: CSTB was added gene: CSTB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CSTB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CSTB were set to 9012407; 15329070; 9342192; 8596935 Phenotypes for gene: CSTB were set to UNVERRICHT-LUNDBORG DISEASE 254800 |