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| DDG2P v3.12 | SPTAN1 | Achchuthan Shanmugasundram reviewed gene: SPTAN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 36331550, 34590414, 22258530, 20493457, 29050398; Phenotypes: SPTAN1-related neurodevelopmental disorder with epilepsy and spastic paraplegia, OMIM:613477; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SPTAN1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to SPTAN1. Publications for gene: SPTAN1 were updated from 22258530; 20493457 to 36331550; 34590414; 22258530; 20493457; 29050398 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v0.2 | SPTAN1 | Rebecca Foulger reviewed gene: SPTAN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | SPTAN1 |
Rebecca Foulger gene: SPTAN1 was added gene: SPTAN1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SPTAN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SPTAN1 were set to 22258530; 20493457 Phenotypes for gene: SPTAN1 were set to EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 5 613477 Mode of pathogenicity for gene: SPTAN1 was set to Other - please provide details in the comments |
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