Mosaic skin disorders - deep sequencing
Gene: IKBKGComment on list classification: Incontinentia pigmenti (IP) is a X-linked dominant disorder associated with variants in the IKBKG gene. IP is mostly lethal in males in utero, and only very rare surviving male cases have somatic mosaicism. Phenotypically, cutaneous lesions manifest in Blaschkoid distribution.
Overall 'R327 Mosaic skin disorders - deep sequencing' represents a plausible route for referral and diagnosis for these cases and therefore a Green rating on this panel would be appropriate.Created: 2 Apr 2024, 2:13 p.m. | Last Modified: 2 Apr 2024, 2:21 p.m.
Panel Version: 2.44
Classically XLD disorder which is lethal in males, but somatic mosaicism in males also reported.Created: 18 Feb 2021, 8:11 a.m. | Last Modified: 18 Feb 2021, 8:11 a.m.
Panel Version: 1.5
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Incontinentia pigmenti, 308300
Publications
Added IKBKG (NEMO) to the 'Mosaic skin disorders- deep sequencing' panel as suggested by Anna de Burca and Ellen Thomas, based on known mosaic skin phenotypes. Added IKBKG as an Amber gene awaiting clinical review at the first skin Webex call.
Sources: OtherCreated: 17 Apr 2019, 4:14 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Ectodermal dysplasia and immunodeficiency 1, 300291; Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, 300301; Incontinentia pigmenti, 308300
Gene: ikbkg has been classified as Amber List (Moderate Evidence).
Tag somatic tag was added to gene: IKBKG. Tag Q2_24_promote_green tag was added to gene: IKBKG.
Publications for gene: IKBKG were set to
Phenotypes for gene: IKBKG were changed from Ectodermal dysplasia and immunodeficiency 1, 300291; Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, 300301; Incontinentia pigmenti, 308300 to Incontinentia pigmenti, OMIM:308300
Gene: ikbkg has been classified as Amber List (Moderate Evidence).
gene: IKBKG was added gene: IKBKG was added to Mosaic skin disorders - deep sequencing. Sources: Other 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) Phenotypes for gene: IKBKG were set to Ectodermal dysplasia and immunodeficiency 1, 300291; Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, 300301; Incontinentia pigmenti, 308300