| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Epidermolysis bullosa v0.36 | IKBKG | Zornitza Stark Marked gene: IKBKG as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v0.36 | IKBKG | Zornitza Stark Gene: ikbkg has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v0.36 | IKBKG | Zornitza Stark Classified gene: IKBKG as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v0.36 | IKBKG | Zornitza Stark Gene: ikbkg has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v0.35 | IKBKG | Zornitza Stark Tag SV/CNV tag was added to gene: IKBKG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v0.24 | IKBKG |
Paul De Fazio gene: IKBKG was added gene: IKBKG was added to Epidermolysis bullosa. Sources: Literature Mode of inheritance for gene: IKBKG was set to Other Publications for gene: IKBKG were set to 12588226; 30151858; 10839543; 11673821 Phenotypes for gene: IKBKG were set to Incontinentia pigmenti (MIM#308300) Review for gene: IKBKG was set to GREEN gene: IKBKG was marked as current diagnostic Added comment: Well-established association with Incontinentia pigmenti, which is a multi-stage disease, stage 1 of which has blister-like bullous eruptions that are linear on the extremities and/or circumferential on the trunk, which usually disappear by 18 months (GeneReviews - https://www.ncbi.nlm.nih.gov/books/NBK1472/). Most pathogenic variants are gene rearrangements or multi-exon deletions. X-linked dominant, with presumed male lethality (although there are reports of mosaic and XXY affected males). This gene is also associated with Ectodermal dysplasia and immunodeficiency but these associations do not fit this panel. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||