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| DDG2P v3.33 | KCNE1 | Achchuthan Shanmugasundram Tag watchlist was removed from gene: KCNE1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.33 | KCNE1 |
Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease JERVELL AND LANGE-NIELSEN SYNDROME TYPE 2, OMIM:612347 is strong. The allelic requirement, mutation consequence and cross cutting modifier are biallelic_autosomal, altered gene product structure and potential IF respectively (PMIDs: 30461122). The DDG2P confidence category for the disease LONG QT SYNDROME-5, OMIM:613695 is limited. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and potential IF respectively (PMIDs: ).; to: The DDG2P confidence category for the disease JERVELL AND LANGE-NIELSEN SYNDROME TYPE 2, OMIM:612347 is strong. The allelic requirement, mutation consequence and cross cutting modifier are biallelic_autosomal, altered gene product structure and potential IF respectively (PMIDs: 30461122). The DDG2P confidence category for the disease LONG QT SYNDROME-5, OMIM:613695 is limited. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and potential IF respectively. |
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| DDG2P v3.12 | KCNE1 | Achchuthan Shanmugasundram reviewed gene: KCNE1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30461122; Phenotypes: LONG QT SYNDROME-5, OMIM:613695, JERVELL AND LANGE-NIELSEN SYNDROME TYPE 2, OMIM:612347; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | KCNE1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to KCNE1. Mode of inheritance for gene KCNE1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal Mode of pathogenicity for gene KCNE1 was changed from Other - please provide details in the comments to Other Publications for gene: KCNE1 were updated from to 30461122 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v2.62 | KCNE1 | Arina Puzriakova Phenotypes for gene: KCNE1 were changed from JERVELL AND LANGE-NIELSEN SYNDROME TYPE 2 612347; LONG QT SYNDROME-5 613695 to Jervell and Lange-Nielsen syndrome 2, OMIM:612347; Long QT syndrome 5, OMIM:613695 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.131 | KCNE1 | Rebecca Foulger commented on gene: KCNE1: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for JERVELL AND LANGE-NIELSEN SYNDROME TYPE 2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.95 | KCNE1 | Rebecca Foulger commented on gene: KCNE1: Kept rating as Amber to reflect DDG2P Disease confidence of 'child IF' for LONG QT SYNDROME-5, and DDG2P Disease confidence of 'both DD and IF' for JERVELL AND LANGE-NIELSEN SYNDROME TYPE 2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.4 | KCNE1 | Rebecca Foulger Tag watchlist tag was added to gene: KCNE1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.4 | KCNE1 | Rebecca Foulger commented on gene: KCNE1: Added watchlist tag to highlight different DD-G2P ratings for different gene:disorder associations. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | KCNE1 | Rebecca Foulger reviewed gene: KCNE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | KCNE1 | Rebecca Foulger Added phenotypes LONG QT SYNDROME-5 613695 for gene: KCNE1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | KCNE1 |
Rebecca Foulger gene: KCNE1 was added gene: KCNE1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: KCNE1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: KCNE1 were set to JERVELL AND LANGE-NIELSEN SYNDROME TYPE 2 612347 Mode of pathogenicity for gene: KCNE1 was set to Other - please provide details in the comments |
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