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| DDG2P v3.12 | SLC35A2 | Achchuthan Shanmugasundram reviewed gene: SLC35A2: Rating: GREEN; Mode of pathogenicity: ; Publications: 24115232; Phenotypes: Epileptic Encephalopathy due to congenital disorder of glycosylation; 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 v1.145 | SLC35A2 | Rebecca Foulger Phenotypes for gene: SLC35A2 were changed from CONGENITAL DISORDER OF GLYCOSYLATION to Epileptic Encephalopathy due to congenital disorder of glycosylation | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.144 | SLC35A2 | Rebecca Foulger Publications for gene: SLC35A2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.138 | SLC35A2 | Rebecca Foulger changed review comment from: Original DDG2P rating: confirmed. ; to: Original DDG2P rating: confirmed for Epileptic Encephalopathy due to congenital disorder of glycosylation. DDG2P Allelic requirement: x-linked dominant. DDG2P mutation consequence: loss of function. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.138 | SLC35A2 | Rebecca Foulger Added comment: Comment on mode of inheritance: Changed mode of inheritance to XLD to match Gene2Phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.138 | SLC35A2 | Rebecca Foulger Mode of inheritance for gene: SLC35A2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SLC35A2 | Rebecca Foulger reviewed gene: SLC35A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | SLC35A2 |
Rebecca Foulger gene: SLC35A2 was added gene: SLC35A2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC35A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SLC35A2 were set to CONGENITAL DISORDER OF GLYCOSYLATION |
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