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| DDG2P v3.12 | PIGK | Achchuthan Shanmugasundram reviewed gene: PIGK: Rating: GREEN; Mode of pathogenicity: ; Publications: 32220290; Phenotypes: PIGK-associated Neurodevelopmental Syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PGK1 | Achchuthan Shanmugasundram reviewed gene: PGK1: Rating: GREEN; Mode of pathogenicity: ; Publications: 16567715, 9512313, 1586722, 8673469, 1547346, 6933565, 16740138, 19157875, 9744480, 6941312; Phenotypes: PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, OMIM:300653; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GK | Achchuthan Shanmugasundram reviewed gene: GK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: GLYCEROL KINASE DEFICIENCY, OMIM:307030; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | AGK | Achchuthan Shanmugasundram reviewed gene: AGK: Rating: GREEN; Mode of pathogenicity: ; Publications: 22415731, 22284826, 22277967, 26622071, 3560758, 25208612, 15168109, 23266196; Phenotypes: SENGERS SYNDROME, OMIM:212350; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PIGK |
Achchuthan Shanmugasundram gene: PIGK was added gene: PIGK was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PIGK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIGK were set to 32220290 Phenotypes for gene: PIGK were set to PIGK-associated Neurodevelopmental Syndrome |
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| DDG2P v3.11 | PGK1 | Achchuthan Shanmugasundram Publications for gene: PGK1 were updated from 9512313; 6933565; 6941312; 8673469; 16740138; 19157875; 1586722; 16567715; 9744480; 1547346 to 16567715; 9512313; 1586722; 8673469; 1547346; 6933565; 16740138; 19157875; 9744480; 6941312 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | AGK | Achchuthan Shanmugasundram Publications for gene: AGK were updated from 15168109; 22284826; 22277967; 3560758 to 22415731; 22284826; 22277967; 26622071; 3560758; 25208612; 15168109; 23266196 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PGK1 | Rebecca Foulger reviewed gene: PGK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | GK | Rebecca Foulger reviewed gene: GK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | AGK | Rebecca Foulger reviewed gene: AGK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | TP63 | Rebecca Foulger Added phenotypes ECTODERMAL DYSPLASIA RAPP-HODGKIN TYPE 129400 for gene: TP63 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | PGK1 |
Rebecca Foulger gene: PGK1 was added gene: PGK1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PGK1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: PGK1 were set to 9512313; 6933565; 6941312; 8673469; 16740138; 19157875; 1586722; 16567715; 9744480; 1547346 Phenotypes for gene: PGK1 were set to PHOSPHOGLYCERATE KINASE 1 DEFICIENCY 300653 |
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| DDG2P v0.1 | GK |
Rebecca Foulger gene: GK was added gene: GK was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GK was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: GK were set to GLYCEROL KINASE DEFICIENCY 307030 |
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| DDG2P v0.1 | AGK |
Rebecca Foulger gene: AGK was added gene: AGK was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: AGK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AGK were set to 15168109; 22284826; 22277967; 3560758 Phenotypes for gene: AGK were set to SENGERS SYNDROME 212350 |
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