Activity
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7 actions
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| DDG2P v6.17 | SP9 | Achchuthan Shanmugasundram reviewed gene: SP9: Rating: GREEN; Mode of pathogenicity: ; Publications: 38288683; Phenotypes: SP9-related neurodevelopmental disorder with or without epileptic encephalopathy, MONDO:0100038; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.16 | SP9 |
Achchuthan Shanmugasundram gene: SP9 was added gene: SP9 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SP9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SP9 were set to 38288683 Phenotypes for gene: SP9 were set to MONDO:0100038; SP9-related neurodevelopmental disorder with or without epileptic encephalopathy |
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| DDG2P v3.12 | USP9X | Achchuthan Shanmugasundram reviewed gene: USP9X: Rating: GREEN; Mode of pathogenicity: ; Publications: 24607389, 31443933, 26833328; Phenotypes: MRX99, OMIM:300919, INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 99, OMIM:300919, INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 99; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | USP9X |
Achchuthan Shanmugasundram Source Expert Review Green was added to USP9X. Publications for gene: USP9X were updated from 24607389; 26833328 to 24607389; 31443933; 26833328 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v0.2 | USP9X | Rebecca Foulger reviewed gene: USP9X: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | USP9X | Rebecca Foulger Added phenotypes MENTAL RETARDATION, X-LINKED 99 300919 for gene: USP9X | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | USP9X |
Rebecca Foulger gene: USP9X was added gene: USP9X was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: USP9X was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: USP9X were set to 24607389; 26833328 Phenotypes for gene: USP9X were set to MENTAL RETARDATION, X-LINKED 99 300919 |
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