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Severe Paediatric Disorders v1.123 PRODH Sarah Leigh Added comment: Comment on list classification: Evidence for the association of PRODH variants with Hyperprolinemia, type I, OMIM; 239500 has been classified as Definitive by ClinGen Aminoacidopathy Gene Curation Expert Panel on 04/27/2021 (https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5f28c677-a9b4-4bb3-9aed-14af97ad9896-2021-04-27T160000.000Z).
Severe Paediatric Disorders v0.17 F9 Louise Daugherty Mode of inheritance for gene F9 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 ARHGEF9 Louise Daugherty Mode of inheritance for gene ARHGEF9 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.12 F9 Louise Daugherty reviewed gene: F9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ARHGEF9 Louise Daugherty reviewed gene: ARHGEF9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.11 F9 Louise Daugherty Publications for gene F9 were updated from to 30847515
Severe Paediatric Disorders v0.11 ARHGEF9 Louise Daugherty Publications for gene ARHGEF9 were updated from to 30847515
Severe Paediatric Disorders v0.10 F9 Louise Daugherty Added phenotypes Thrombophilia, X-linked, due to factor IX defect, 300807; Hemophilia B, 306900 for gene: F9
Severe Paediatric Disorders v0.10 ARHGEF9 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 8, 300607 for gene: ARHGEF9
Severe Paediatric Disorders v0.9 F9 Louise Daugherty Added phenotypes Thrombophilia, X-linked, due to factor IX defect, 300807; Hemophilia B, 306900 for gene: F9
Severe Paediatric Disorders v0.9 ARHGEF9 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 8, 300607 for gene: ARHGEF9
Severe Paediatric Disorders v0.9 F9 Louise Daugherty Added phenotypes Thrombophilia, X-linked, due to factor IX defect, 300807; Hemophilia B, 306900 for gene: F9
Severe Paediatric Disorders v0.9 ARHGEF9 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 8, 300607 for gene: ARHGEF9
Severe Paediatric Disorders v0.8 F9 Louise Daugherty Added phenotypes Thrombophilia, X-linked, due to factor IX defect, 300807; Hemophilia B, 306900 for gene: F9
Severe Paediatric Disorders v0.8 ARHGEF9 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 8, 300607 for gene: ARHGEF9
Severe Paediatric Disorders v0.7 F9 Louise Daugherty Source Next Generation Children Project was added to F9.
Severe Paediatric Disorders v0.7 ARHGEF9 Louise Daugherty Source Next Generation Children Project was added to ARHGEF9.
Severe Paediatric Disorders v0.5 F9 Louise Daugherty Source Expert Review Green was added to F9.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 ARHGEF9 Louise Daugherty Source Expert Review Green was added to ARHGEF9.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.4 F9 Louise Daugherty gene: F9 was added
gene: F9 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: F9 was set to
Severe Paediatric Disorders v0.4 ARHGEF9 Louise Daugherty gene: ARHGEF9 was added
gene: ARHGEF9 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: ARHGEF9 was set to