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| DDG2P v3.12 | SLC2A10 | Achchuthan Shanmugasundram reviewed gene: SLC2A10: Rating: GREEN; Mode of pathogenicity: ; Publications: 14569121, 17935213, 16550171; Phenotypes: ARTERIAL TORTUOSITY SYNDROME, OMIM:208050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SLC2A1 | Achchuthan Shanmugasundram reviewed gene: SLC2A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 10980529, 1714544, 19630075, 14605501, 11136715, 19901175, 11603379, 9462754, 18403583, 18606970, 18577546, 18451999, 20221955; Phenotypes: Glucose Transporter Type 1 Deficiency Syndrome, OMIM:606777; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SLC2A10 | Achchuthan Shanmugasundram Publications for gene: SLC2A10 were updated from 16550171; 17935213; 14569121 to 14569121; 17935213; 16550171 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SLC2A1 | Achchuthan Shanmugasundram Publications for gene: SLC2A1 were updated from 14605501; 19901175; 18451999; 18403583; 19630075; 18577546 to 10980529; 1714544; 19630075; 14605501; 11136715; 19901175; 11603379; 9462754; 18403583; 18606970; 18577546; 18451999; 20221955 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SLC2A10 | Rebecca Foulger reviewed gene: SLC2A10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SLC2A1 | Rebecca Foulger reviewed gene: SLC2A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | SLC2A10 |
Rebecca Foulger gene: SLC2A10 was added gene: SLC2A10 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC2A10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC2A10 were set to 16550171; 17935213; 14569121 Phenotypes for gene: SLC2A10 were set to ARTERIAL TORTUOSITY SYNDROME 208050 |
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| DDG2P v0.1 | SLC2A1 |
Rebecca Foulger Added phenotypes GLUT1 DEFICIENCY SYNDROME TYPE 2 612126 for gene: SLC2A1 Publications for gene SLC2A1 were changed from 10980529; 9462754; 20221955; 18606970; 11603379; 1714544; 11136715 to 14605501; 19901175; 18451999; 18403583; 19630075; 18577546 |
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| DDG2P v0.1 | SLC2A1 |
Rebecca Foulger gene: SLC2A1 was added gene: SLC2A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC2A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SLC2A1 were set to 10980529; 9462754; 20221955; 18606970; 11603379; 1714544; 11136715 Phenotypes for gene: SLC2A1 were set to GLUT1 DEFICIENCY SYNDROME TYPE 1 606777 |
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