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| DDG2P v3.49 | KCNK4 | Achchuthan Shanmugasundram Tag watchlist was removed from gene: KCNK4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.49 | KCNK4 |
Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease Facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, and gingival overgrowth is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:30290154). The DDG2P confidence category for the disease FHEIG (facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, and gingival overgrowth) is limited. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:30290154).; to: The DDG2P confidence category for the disease Facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, and gingival overgrowth is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:30290154). The DDG2P confidence category for the disease FHEIG (facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, and gingival overgrowth) is limited. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:30290154). |
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| DDG2P v3.12 | KCNK4 | Achchuthan Shanmugasundram reviewed gene: KCNK4: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30290154; Phenotypes: Facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, and gingival overgrowth, FHEIG (facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, and gingival overgrowth); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | KCNK4 |
Achchuthan Shanmugasundram Source Expert Review Green was added to KCNK4. Mode of pathogenicity for gene KCNK4 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 v1.20 | KCNK4 | Rebecca Foulger Classified gene: KCNK4 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.20 | KCNK4 | Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Amber to reflect 'probable' disease confidence for 'Facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, and gingival overgrowth' added to DD-G2P in March 2019. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.20 | KCNK4 | Rebecca Foulger Gene: kcnk4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.19 | KCNK4 | Rebecca Foulger commented on gene: KCNK4: Added 'watchlist' tag to highlight different DDG2P Disease confidence ratings for different disorders: Probable for Facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, and gingival overgrowth (with all missense/in frame MOP). Possible for FHEIG (facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, and gingival overgrowth) (with activating MOP). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.19 | KCNK4 | Rebecca Foulger Tag watchlist tag was added to gene: KCNK4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.19 | KCNK4 | Rebecca Foulger commented on gene: KCNK4: New gene:disorder association added to DDG2P in March 2019: Facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, and gingival overgrowth. DDG2P Disease confidence: probable. DDG2P mode of pathogenicity/mutation consequence: all missense/in frame. DDG2P mode of inheritance: monoallelic. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.19 | KCNK4 | Rebecca Foulger Phenotypes for gene: KCNK4 were changed from FHEIG (facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, and gingival overgrowth) to FHEIG (facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, and gingival overgrowth); Facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, and gingival overgrowth | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.9 | KCNK4 | Rebecca Foulger reviewed gene: KCNK4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.8 | KCNK4 |
Rebecca Foulger gene: KCNK4 was added gene: KCNK4 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: KCNK4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KCNK4 were set to 30290154 Phenotypes for gene: KCNK4 were set to FHEIG (facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, and gingival overgrowth) Mode of pathogenicity for gene: KCNK4 was set to Other - please provide details in the comments |
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