Activity
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25 actions
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| DDG2P v6.445 | ZFHX4 | Arina Puzriakova Tag gene-checked tag was added to gene: ZFHX4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.418 | ZFHX3 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: ZFHX3 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | ZFHX3 | Achchuthan Shanmugasundram Tag de novo tag was added to gene: ZFHX3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | ZFHX3 | Achchuthan Shanmugasundram edited their review of gene: ZFHX3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ZFHX3-related neurodevelopmental disorder are moderate, monoallelic_autosomal and loss of function (PMIDs: 30809043, 38412861). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02901.; Changed publications to: 30809043, 32502225, 38412861; Changed phenotypes to: ZFHX3-related neurodevelopmental disorder, OMIM:104155, ZFHX3-related developmental disorder (monoallelic), ZFHX3-related neurodevelopmental disorder | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.44 | KCNK4 | Achchuthan Shanmugasundram Phenotypes for gene: KCNK4 were changed from FHEIG (facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, and gingival overgrowth); Facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, and gingival overgrowth to KCNK4-related facial dysmorphism, hypertrichosis, epilepsy, intellectual and developmental delay, and gingival overgrowth syndrome, OMIM:618381 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.3 | KCNK4 | Achchuthan Shanmugasundram edited their review of gene: KCNK4: Added comment: The DDG2P confidence category for the disease KCNK4-related facial dysmorphism, hypertrichosis, epilepsy, intellectual and developmental delay, and gingival overgrowth syndrome, OMIM:618381 is limited. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 30290154).; Changed rating: RED; Changed phenotypes to: FHEIG (facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, and gingival overgrowth), Facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, and gingival overgrowth, KCNK4-related facial dysmorphism, hypertrichosis, epilepsy, intellectual and developmental delay, and gingival overgrowth syndrome, OMIM:618381 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.10 | ZFHX3 | Achchuthan Shanmugasundram edited their review of gene: ZFHX3: Added comment: The DDG2P confidence category for the disease ZFHX3-related neurodevelopmental disorder, OMIM:104155 is moderate. The allelic requirement and mutation consequence are monoallelic_autosomal and decreased gene product level (PMID: 38412861;30809043).; Changed rating: GREEN; Changed mode of pathogenicity: Other; Changed publications to: 30809043, 38412861, 32502225; Changed phenotypes to: ZFHX3-related neurodevelopmental disorder, OMIM:104155, ZFHX3-related developmental disorder (monoallelic) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.9 | ZFHX3 |
Achchuthan Shanmugasundram Source Expert Review Green was added to ZFHX3. Mode of pathogenicity for gene ZFHX3 was changed from to Other Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| 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 | ZFHX4 | Achchuthan Shanmugasundram reviewed gene: ZFHX4: Rating: GREEN; Mode of pathogenicity: ; Publications: 11935336, 33057194; Phenotypes: ZFHX4-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ZFHX3 | Achchuthan Shanmugasundram reviewed gene: ZFHX3: Rating: RED; Mode of pathogenicity: ; Publications: 32502225, 30809043; Phenotypes: ZFHX3-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 v3.12 | FHL1 | Achchuthan Shanmugasundram reviewed gene: FHL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 35607917, 19716112, 19687455, 18179888; Phenotypes: EMERY-DREIFUSS MUSCULAR DYSTROPHY 6, X-LINKED, OMIM:300696; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FH | Achchuthan Shanmugasundram reviewed gene: FH: Rating: GREEN; Mode of pathogenicity: ; Publications: 8200987, 22069215; Phenotypes: FUMARASE DEFICIENCY, OMIM:606812; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | ZFHX4 |
Achchuthan Shanmugasundram gene: ZFHX4 was added gene: ZFHX4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ZFHX4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ZFHX4 were set to 11935336; 33057194 Phenotypes for gene: ZFHX4 were set to ZFHX4-related developmental disorder (monoallelic) |
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| DDG2P v3.11 | ZFHX3 |
Achchuthan Shanmugasundram gene: ZFHX3 was added gene: ZFHX3 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: ZFHX3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ZFHX3 were set to 32502225; 30809043 Phenotypes for gene: ZFHX3 were set to ZFHX3-related developmental disorder (monoallelic) |
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| DDG2P v3.11 | FHL1 | Achchuthan Shanmugasundram Publications for gene: FHL1 were updated from 19716112; 18179888; 19687455 to 35607917; 19716112; 19687455; 18179888 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | FH | Achchuthan Shanmugasundram Publications for gene: FH were updated from to 8200987; 22069215 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 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 v0.8 | 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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| DDG2P v0.2 | FHL1 | Rebecca Foulger reviewed gene: FHL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | FH | Rebecca Foulger reviewed gene: FH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | FHL1 |
Rebecca Foulger gene: FHL1 was added gene: FHL1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FHL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: FHL1 were set to 19716112; 18179888; 19687455 Phenotypes for gene: FHL1 were set to EMERY-DREIFUSS MUSCULAR DYSTROPHY 6, X-LINKED 300696 |
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| DDG2P v0.1 | FH |
Rebecca Foulger gene: FH was added gene: FH was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FH were set to FUMARASE DEFICIENCY 606812 |
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