Skeletal dysplasia
Gene: IKBKG
Osteopetrosis and related disorders SD gp - at least 3 cases; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.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, anhidrotic, lymphedema and immunodeficiency 300301; Incontinentia pigmenti 308300
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: IKBKG; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
Comment on mode of inheritance: All the phenotypes associated with this gene have X-LINKED: hemizygous mutation in males, biallelic mutations in females, EXCEPT for Incontinentia pigmenti 308300, which is X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) according to Gen2PhenCreated: 10 Apr 2017, 3:14 p.m.
Comment on mode of inheritance: Unknown for inheritance for Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency 300301 and Incontinentia pigmenti 308300Created: 1 Aug 2016, 10:53 a.m.
Comment when marking as ready: Associated with phenotypes in OMIM and G2P. Numerous variants reported in Incontinentia pigmenti 308300 and at least one in Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency 300301Created: 29 Jul 2016, 9:48 a.m.
Comment on phenotypes: Ectodermal dysplasia, hypohidrotic, with immune deficiency 300291, Immunodeficiency 33 300636, Immunodeficiency, isolated 300584 and Invasive pneumococcal disease, recurrent isolated, 2 300640Created: 29 Jul 2016, 9:42 a.m.
Tier 1Created: 17 Jun 2016, 8:05 a.m.
Mode of inheritance
Other - please specify in evaluation comments
Phenotypes
Ectodermal dysplasia, hypohidrotic, with immune deficiency 300291; Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency 300301; Immunodeficiency 33 300636; Immunodeficiency, isolated 300584; Incontinentia pigmenti 308300 XLD
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: IKBKG were changed from Incontinentia pigmenti 308300; Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency 300301 to Ectodermal dysplasia and immunodeficiency 1, OMIM:300291
Added phenotypes Incontinentia pigmenti 308300; Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency 300301 for gene: IKBKG
Source NHS GMS was added to IKBKG. Rating Changed from Green List (high evidence) to Green List (high evidence)
Mode of inheritance for IKBKG was changed to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Promoted to version 1 9th August 2016
Mode of inheritance for IKBKG was changed to Unknown
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Phenotypes for IKBKG were set to Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency 300301; Incontinentia pigmenti 308300
Phenotypes for IKBKG were set to Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency 300301; Incontinentia pigmenti 308300 XLD
IKBKG was added to Unexplained skeletal dysplasiapanel. Sources: Expert list,Radboud University Medical Center, Nijmegen,UKGTN
Phenotypes for IKBKG were set to Ectodermal dysplasia, hypohidrotic, with immune deficiency 300291; Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency 300301; Immunodeficiency 33 300636; Immunodeficiency, isolated 300584; Incontinentia pigmenti 308300 XLD
IKBKG was added to Unexplained skeletal dysplasiapanel. Sources:
IKBKG was created by sleigh