| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Cataract v0.81 | IKBKG | Zornitza Stark Marked gene: IKBKG as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.81 | IKBKG | Zornitza Stark Gene: ikbkg has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.81 | IKBKG | Zornitza Stark Phenotypes for gene: IKBKG were changed from to Incontinentia pigmenti (308300); / Ectodermal dysplasia and immunodeficiency 1 (300291); Ectodermal dysplasia, anhidrotic, lymphoedema and immunodeficiency (300301); Immunodeficiency 33 (300636); Immunodeficiency, isolated (300584); Invasive pneumococcal disease, recurrent isolated 2 (300640) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.80 | IKBKG | Zornitza Stark Publications for gene: IKBKG were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.79 | IKBKG | Zornitza Stark Mode of inheritance for gene: IKBKG was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.78 | IKBKG | Zornitza Stark Classified gene: IKBKG as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.78 | IKBKG | Zornitza Stark Gene: ikbkg has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.60 | IKBKG | Lauren Akesson reviewed gene: IKBKG: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 22564885 (review), 12975158, 20499493, 10893071; Phenotypes: Incontinentia pigmenti (308300), / Ectodermal dysplasia and immunodeficiency 1 (300291), Ectodermal dysplasia, anhidrotic, lymphoedema and immunodeficiency (300301), Immunodeficiency 33 (300636), Immunodeficiency, isolated (300584), Invasive pneumococcal disease, recurrent isolated 2 (300640); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | IKBKG |
Zornitza Stark gene: IKBKG was added gene: IKBKG was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: IKBKG was set to Unknown |
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