Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Incontinentia pigmenti v1.2 | IKBKG | Arina Puzriakova Phenotypes for gene: IKBKG were changed from to Incontinentia pigmenti, OMIM:308300 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Incontinentia pigmenti v1.1 | Eleanor Williams Panel version 1.0 has been signed off on 2023-09-14 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Incontinentia pigmenti v1.0 | Eleanor Williams promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Incontinentia pigmenti v0.3 | Eleanor Williams Panel types changed to GMS Rare Disease; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Incontinentia pigmenti v0.2 | Achchuthan Shanmugasundram Panel status changed from internal to public | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Incontinentia pigmenti v0.1 | IKBKG | Achchuthan Shanmugasundram reviewed gene: IKBKG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Incontinentia pigmenti v0.1 | IKBKG |
Achchuthan Shanmugasundram gene: IKBKG was added gene: IKBKG was added to Incontinentia pigmenti. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: IKBKG was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
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Incontinentia pigmenti v0.0 |
Achchuthan Shanmugasundram Added Panel Incontinentia pigmenti Set list of related panels to R239 Set panel types to: GMS Rare Disease |