Structural eye disease
Gene: IKBKG
Scheuerle reported 4 cases with microphthalmia and Incontinentia Pigmenti but did not perform any sequencing of IKBKG. Minic also reported an IP case with microphthalmia but did not perform any sequencing.Created: 2 Oct 2019, 3:48 p.m. | Last Modified: 2 Oct 2019, 3:48 p.m.
Panel Version: 0.91
Publications
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes
Incontinentia pigmenti, IP
Phenotypes for gene: IKBKG were changed from Incontinentia pigmenti, IP, 308300 to Incontinentia pigmenti, OMIM:308300
Source NHS GMS was added to IKBKG. Source Expert Review Red was added to IKBKG. Publications for gene IKBKG were changed from to 31119873; 20499493; 30905793 Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Source Expert Review Amber was added to IKBKG. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
gene: IKBKG was added gene: IKBKG was added to Structural eye disease. Sources: London North GLH Mode of inheritance for gene: IKBKG was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: IKBKG were set to Incontinentia pigmenti, IP, 308300