Activity
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| DDG2P v3.12 | CBS | Achchuthan Shanmugasundram reviewed gene: CBS: Rating: GREEN; Mode of pathogenicity: ; Publications: 8353501, 8528202, 1301198, 10780316, 9361025, 7506602, 8990018, 14635102, 16479318, 10338090, 8755636; Phenotypes: CYSTATHIONINE BETA-SYNTHASE DEFICIENCY, OMIM:236200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | CBS | Achchuthan Shanmugasundram Publications for gene: CBS were updated from 9361025; 7506602; 8755636; 10780316; 1301198; 16479318; 8990018; 14635102; 8353501; 8528202 to 8353501; 8528202; 1301198; 10780316; 9361025; 7506602; 8990018; 14635102; 16479318; 10338090; 8755636 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CBS | Rebecca Foulger reviewed gene: CBS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | CBS |
Rebecca Foulger gene: CBS was added gene: CBS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CBS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CBS were set to 9361025; 7506602; 8755636; 10780316; 1301198; 16479318; 8990018; 14635102; 8353501; 8528202 Phenotypes for gene: CBS were set to CYSTATHIONINE BETA-SYNTHASE DEFICIENCY 236200 |
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