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| DDG2P v3.12 | FN1 | Achchuthan Shanmugasundram reviewed gene: FN1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29100092; Phenotypes: Spondylometaphyseal Dysplasia with Corner Fractures, OMIM:184255; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ELFN1 | Achchuthan Shanmugasundram reviewed gene: ELFN1: Rating: RED; Mode of pathogenicity: ; Publications: 34509675; Phenotypes: ELFN1-related intellectual disability and epilepsy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | FN1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to FN1. Mode of pathogenicity for gene FN1 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | ELFN1 |
Achchuthan Shanmugasundram gene: ELFN1 was added gene: ELFN1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: ELFN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ELFN1 were set to 34509675 Phenotypes for gene: ELFN1 were set to ELFN1-related intellectual disability and epilepsy |
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| DDG2P v1.91 | FN1 | Rebecca Foulger Phenotypes for gene: FN1 were changed from Spondylometaphyseal Dysplasia with Corner Fractures to Spondylometaphyseal Dysplasia with Corner Fractures 184255 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | FN1 | Rebecca Foulger reviewed gene: FN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | FN1 |
Rebecca Foulger gene: FN1 was added gene: FN1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: FN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FN1 were set to 29100092 Phenotypes for gene: FN1 were set to Spondylometaphyseal Dysplasia with Corner Fractures Mode of pathogenicity for gene: FN1 was set to Other - please provide details in the comments |
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