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| DDG2P v3.12 | SYN1 | Achchuthan Shanmugasundram reviewed gene: SYN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS, OMIM:300491; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NADSYN1 | Achchuthan Shanmugasundram reviewed gene: NADSYN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 31883644, 35491967; Phenotypes: NADSYN1-related Congenital NAD Deficiency Disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SYN1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to SYN1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | NADSYN1 |
Achchuthan Shanmugasundram gene: NADSYN1 was added gene: NADSYN1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NADSYN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NADSYN1 were set to 31883644; 35491967 Phenotypes for gene: NADSYN1 were set to NADSYN1-related Congenital NAD Deficiency Disorder |
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| DDG2P v0.2 | SYN1 | Rebecca Foulger reviewed gene: SYN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | SYN1 |
Rebecca Foulger gene: SYN1 was added gene: SYN1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SYN1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: SYN1 were set to EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS 290927 |
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