Skeletal dysplasia

Gene: IKBKG

Green List (high evidence)

Osteopetrosis and related disorders SD gp - at least 3 cases; Review on behalf of Tracy Lester

Created: 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

I don't know

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: green

Created: 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 Gen2Phen

Created: 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 308300

Created: 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 300301

Created: 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 300640

Created: 29 Jul 2016, 9:42 a.m.

Green List (high evidence)

Tier 1

Created: 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