Activity
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7 actions
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| 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 | 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 | 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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