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Early onset or syndromic epilepsy v4.184 IKBKG Arina Puzriakova Phenotypes for gene: IKBKG were changed from Incontinentia pigmenti, 308300 to Incontinentia pigmenti, OMIM:308300
Early onset or syndromic epilepsy v1.280 IKBKG Rebecca Foulger Marked gene: IKBKG as ready
Early onset or syndromic epilepsy v1.280 IKBKG Rebecca Foulger Gene: ikbkg has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v1.280 IKBKG Rebecca Foulger Publications for gene: IKBKG were set to 30151858; 28794079; 24339369
Early onset or syndromic epilepsy v1.279 IKBKG Rebecca Foulger Added comment: Comment on mode of inheritance: Kept Mode of Inheritance as XLD based on Post-Webex review by Helen Lord.
Early onset or syndromic epilepsy v1.279 IKBKG Rebecca Foulger 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)
Early onset or syndromic epilepsy v1.262 IKBKG Rebecca Foulger commented on gene: IKBKG: 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.
Early onset or syndromic epilepsy v1.261 IKBKG Helen Lord reviewed gene: IKBKG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Early onset or syndromic epilepsy v1.213 IKBKG Rebecca Foulger Added comment: Comment on mode of inheritance: OMIM lists XLD inheritance for Incontinentia pigmenti (MIM:308300).
Early onset or syndromic epilepsy v1.213 IKBKG Rebecca Foulger 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)
Early onset or syndromic epilepsy v1.191 IKBKG Rebecca Foulger Source Wessex and West Midlands GLH was added to IKBKG.
Early onset or syndromic epilepsy v1.190 IKBKG Rebecca Foulger Source NHS GMS was added to IKBKG.
Early onset or syndromic epilepsy v1.189 IKBKG Rebecca Foulger reviewed gene: IKBKG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 IKBKG Tracy Lester reviewed gene: IKBKG: Rating: GREEN; Mode of pathogenicity: ; Publications: 28870493, 28870493 ; Phenotypes: Incontinentia pigmenti, 308300, Immunodeficiency , 300636; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Early onset or syndromic epilepsy v0.925 IKBKG Ivone Leong Marked gene: IKBKG as ready
Early onset or syndromic epilepsy v0.925 IKBKG Ivone Leong Gene: ikbkg has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.925 IKBKG Ivone Leong Publications for gene: IKBKG were set to
Early onset or syndromic epilepsy v0.924 IKBKG Ivone Leong Classified gene: IKBKG as Green List (high evidence)
Early onset or syndromic epilepsy v0.924 IKBKG Ivone Leong Added comment: 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) are affect ~30% of patients with incontinentia pigmenti (PMID:28870493).
Early onset or syndromic epilepsy v0.924 IKBKG Ivone Leong Gene: ikbkg has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.921 IKBKG Ivone Leong 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)
Early onset or syndromic epilepsy v0.894 IKBKG Ivone Leong Phenotypes for gene: IKBKG were changed from to Incontinentia pigmenti, 308300
Early onset or syndromic epilepsy IKBKG Zornitza Stark reviewed gene: IKBKG
Early onset or syndromic epilepsy IKBKG Sarah Leigh Added gene to panel