Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DDG2P v3.12 | GLB1 | Achchuthan Shanmugasundram reviewed gene: GLB1: Rating: GREEN; Mode of pathogenicity: ; Publications: 1907800, 12644936, 1606711, 10841810, 1928092, 7586649, 1909089, 8199591, 8213816, 10737981, 8198123, 11511921; Phenotypes: GM1-GANGLIOSIDOSIS TYPE 3, OMIM:230650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.11 | GLB1 | Achchuthan Shanmugasundram Publications for gene: GLB1 were updated from 1907800; 1909089; 8198123 to 1907800; 12644936; 1606711; 10841810; 1928092; 7586649; 1909089; 8199591; 8213816; 10737981; 8198123; 11511921 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.2 | GLB1 | Rebecca Foulger reviewed gene: GLB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.1 | GLB1 |
Rebecca Foulger Added phenotypes GM1-GANGLIOSIDOSIS TYPE 3 230650 for gene: GLB1 Publications for gene GLB1 were changed from 1907800; 10737981; 1909089; 8199591; 10841810; 1928092; 1606711; 8213816 to 1907800; 1909089; 8198123 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.1 | GLB1 |
Rebecca Foulger Added phenotypes GM1-GANGLIOSIDOSIS TYPE 1 230500 for gene: GLB1 Publications for gene GLB1 were changed from 1909089; 12644936 to 1907800; 10737981; 1909089; 8199591; 10841810; 1928092; 1606711; 8213816 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.1 | GLB1 |
Rebecca Foulger Added phenotypes GM1-GANGLIOSIDOSIS TYPE 2 230600 for gene: GLB1 Publications for gene GLB1 were changed from 1928092; 11511921; 7586649; 10841810 to 1909089; 12644936 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.1 | GLB1 |
Rebecca Foulger gene: GLB1 was added gene: GLB1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GLB1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GLB1 were set to 1928092; 11511921; 7586649; 10841810 Phenotypes for gene: GLB1 were set to MUCOPOLYSACCHARIDOSIS TYPE 4B 253010 |