Activity
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14 actions
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| DDG2P v6.165 | FN1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: FN1 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | FN1 | Achchuthan Shanmugasundram edited their review of gene: FN1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for FN1-related spondylometaphyseal dysplasia with corner fractures are strong, monoallelic_autosomal and undetermined (PMID:29100092). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02384.; Changed phenotypes to: Spondylometaphyseal Dysplasia with Corner Fractures, OMIM:184255, OMIM:184255.0, FN1-related spondylometaphyseal dysplasia with corner fractures, MONDO:0008479 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.3 | ELFN1 | Arina Puzriakova Publications for gene: ELFN1 were set to 34509675 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.2 | ELFN1 | Arina Puzriakova Classified gene: ELFN1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.2 | ELFN1 | Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to support this gene disease association, however, the content of this panel reflects genes and classifications assigned by Gene2Phenotype on their DDG2P panel. 'ELFN1-related intellectual disability and epilepsy' is currently classified as 'limited' (https://www.ebi.ac.uk/gene2phenotype/gene/ELFN1) which maps to the PanelApp rating of Red - therefore this rating will be maintained on this panel. This gene has been added to other GMS panels with a green recommendation (ID and epilepsy) to capture the evidence and ensure inclusion of ELFN1 in the NHS GMS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.2 | ELFN1 | Arina Puzriakova Gene: elfn1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.1 | ELFN1 | Rhys Dore reviewed gene: ELFN1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 40576023, 34509675, 34452636; Phenotypes: intellectual disability, developmental delay, epilepsy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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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