Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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24 actions
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| DDG2P v6.17 | WASF1 | Achchuthan Shanmugasundram Tag de novo tag was added to gene: WASF1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | SF1 | Achchuthan Shanmugasundram reviewed gene: SF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 40987292; Phenotypes: MONDO:0700092, SF1-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.16 | SF1 |
Achchuthan Shanmugasundram gene: SF1 was added gene: SF1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SF1 were set to 40987292 Phenotypes for gene: SF1 were set to MONDO:0700092; SF1-related neurodevelopmental disorder |
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| DDG2P v6.5 | TNFRSF13B | Arina Puzriakova Classified gene: TNFRSF13B as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.5 | TNFRSF13B | Arina Puzriakova Added comment: Comment on list classification: The content of this panel reflects genes and classifications assigned by Gene2Phenotype on their DDG2P panel. 'TNFRSF13B-related immunodeficiency, common variable' is currently classified as 'strong' (https://www.ebi.ac.uk/gene2phenotype/gene/TNFRSF13B) which maps to the PanelApp rating of Green - therefore this rating will be maintained on this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.5 | TNFRSF13B | Arina Puzriakova Gene: tnfrsf13b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.48 | TNFRSF13B | Ronnie Wright reviewed gene: TNFRSF13B: Rating: RED; Mode of pathogenicity: Other; Publications: ; Phenotypes: ; Mode of inheritance: Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | WASF1 | Achchuthan Shanmugasundram reviewed gene: WASF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29961568; Phenotypes: Intellectual Disability with Seizures; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TNFRSF13B | Achchuthan Shanmugasundram reviewed gene: TNFRSF13B: Rating: GREEN; Mode of pathogenicity: ; Publications: 16007086; Phenotypes: IMMUNODEFICIENCY, COMMON VARIABLE, 2, OMIM:240500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SRSF1 | Achchuthan Shanmugasundram reviewed gene: SRSF1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: SRSF1-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | IGSF1 | Achchuthan Shanmugasundram reviewed gene: IGSF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23143598; Phenotypes: CENTRAL HYPOTHYROIDISM AND TESTICULAR ENLARGEMENT, OMIM:300888; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CSF1R | Achchuthan Shanmugasundram reviewed gene: CSF1R: Rating: GREEN; Mode of pathogenicity: ; Publications: 30982609, 30982608; Phenotypes: BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS, OMIM:618476; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | WASF1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to WASF1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | TNFRSF13B |
Achchuthan Shanmugasundram Source Expert Review Green was added to TNFRSF13B. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | SRSF1 |
Achchuthan Shanmugasundram gene: SRSF1 was added gene: SRSF1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: SRSF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SRSF1 were set to SRSF1-related developmental disorder (monoallelic) |
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| DDG2P v3.11 | CSF1R | Achchuthan Shanmugasundram Publications for gene: CSF1R were updated from 30982608; 30982609 to 30982608; 30982609 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.130 | CSF1R | Rebecca Foulger reviewed gene: CSF1R: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.129 | CSF1R |
Rebecca Foulger gene: CSF1R was added gene: CSF1R was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Green Mode of inheritance for gene: CSF1R was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CSF1R were set to 30982608; 30982609 Phenotypes for gene: CSF1R were set to BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS 618476 |
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| DDG2P v1.38 | WASF1 | Rebecca Foulger reviewed gene: WASF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.37 | WASF1 |
Rebecca Foulger gene: WASF1 was added gene: WASF1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: WASF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: WASF1 were set to 29961568 Phenotypes for gene: WASF1 were set to Intellectual Disability with Seizures |
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| DDG2P v0.2 | TNFRSF13B | Rebecca Foulger reviewed gene: TNFRSF13B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | IGSF1 | Rebecca Foulger reviewed gene: IGSF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | TNFRSF13B |
Rebecca Foulger gene: TNFRSF13B was added gene: TNFRSF13B was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TNFRSF13B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TNFRSF13B were set to 16007086 Phenotypes for gene: TNFRSF13B were set to IMMUNODEFICIENCY, COMMON VARIABLE, 2 240500 |
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| DDG2P v0.1 | IGSF1 |
Rebecca Foulger gene: IGSF1 was added gene: IGSF1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: IGSF1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: IGSF1 were set to 23143598 Phenotypes for gene: IGSF1 were set to CENTRAL HYPOTHYROIDISM AND TESTICULAR ENLARGEMENT 300888 |
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