Early onset or syndromic epilepsy
Gene: IKBKG
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Comment on mode of inheritance: Kept Mode of Inheritance as XLD based on Post-Webex review by Helen Lord.Created: 7 Sep 2019, 10:58 a.m. | Last Modified: 7 Sep 2019, 10:58 a.m.
Panel Version: 1.279
Mode of inheritance collated by Helen Lord (Oxford University Hospitals NHS Foundation Trust, 2019_08_30) on behalf of West Midlands, Oxford and Wessex GLH for GMS Neurology specialist test group. This gene is part of a subset where the mode of inheritance was re-reviewed following the group Webex call on 2019_08_08 for Clinical Indication R59 Early onset or syndromic epilepsy. No rating was included in the review, so I have uploaded a Green rating to match the original West Midlands, Oxford and Wessex GLH rating.Created: 5 Sep 2019, 2:26 p.m. | Last Modified: 5 Sep 2019, 2:26 p.m.
Panel Version: 1.262
Comment on mode of inheritance: OMIM lists XLD inheritance for Incontinentia pigmenti (MIM:308300).Created: 13 Aug 2019, 1:34 p.m. | Last Modified: 13 Aug 2019, 1:34 p.m.
Panel Version: 1.213
Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor. Suggested gene rating: Green.Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
Incontinentia pigmenti is associated with seizures (About 30% of people with IP have neurologic manifestations, including seizures, motor problems, microcephaly, learning difficulties, and ataxia). Majority of mutations are attributed to the genomic deletion of IKBKG from exon 4-10.Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Incontinentia pigmenti, 308300; Immunodeficiency , 300636
Publications
Comment on list classification: Promoted from amber to green. Incontinentia pigmenti is confirmed by OMIM and Gene2Phenotype. There are >3 unrelated families with a variant in this gene diagnosed with incontinentia pigmenti who have seizures (PMID: 30151858,28794079,24339369). Neurological symptoms (including seizures) affect ~30% of patients with incontinentia pigmenti (PMID:28870493).Created: 19 Nov 2018, 10:55 a.m.
XLD, seizures are a feature of this multi-system disorder.Created: 16 Aug 2018, 12:51 a.m.
Mode of inheritance
Other
Phenotypes
Incontinentia pigmenti, MIM#308300
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: IKBKG were changed from Incontinentia pigmenti, 308300 to Incontinentia pigmenti, OMIM:308300
Gene: ikbkg has been classified as Green List (High Evidence).
Publications for gene: IKBKG were set to 30151858; 28794079; 24339369
Mode of inheritance for gene: IKBKG was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mode of inheritance for gene: IKBKG was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Source Wessex and West Midlands GLH was added to IKBKG.
Source NHS GMS was added to IKBKG.
Zornitza Stark: XLD, seizures are a feature of
Gene: ikbkg has been classified as Green List (High Evidence).
Publications for gene: IKBKG were set to
Gene: ikbkg has been classified as Green List (High Evidence).
Mode of inheritance for gene: IKBKG was changed from 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 changed from to Incontinentia pigmenti, 308300
Expert Review Amber was added to IKBKG. Panel: Genetic Epilepsy Syndromes
IKBKG was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
IKBKG was created by Sarah Leigh