Rare genetic inflammatory skin disorders
Gene: IKBKG
IP is a single gene entry in test directory, and IKBKG provides difficulty in panel testing due to presence of pseudogene.Created: 12 Dec 2019, 3:08 p.m. | Last Modified: 12 Dec 2019, 3:08 p.m.
Panel Version: 0.21
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Incontinentia pigmenti
Publications
This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: IKBKG; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.Created: 31 Jan 2019, 2:02 p.m.
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: IKBKG were changed from Incontinentia pigmenti; Incontinentia pigmenti, Ectodermal dysplasia to Incontinentia pigmenti, OMIM:308300
Source Expert Review Amber was added to IKBKG. Added phenotypes Incontinentia pigmenti for gene: IKBKG Publications for gene IKBKG were changed from to 10839543 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Source London North GLH was added to IKBKG.
gene: IKBKG was added gene: IKBKG was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: IKBKG was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: IKBKG were set to Incontinentia pigmenti, Ectodermal dysplasia