Retinal disorders
Gene: IKBKG
Comment on mode of inheritance: IKBKG is associated with IP as commented by Robert Henderson GOSH. IP is XLD in OMIMCreated: 8 Oct 2019, 9:22 a.m. | Last Modified: 8 Oct 2019, 9:22 a.m.
Panel Version: 1.199
Comment on phenotypes: IKBKG is associated with IP as commented by Robert Henderson GOSHCreated: 8 Oct 2019, 9:21 a.m. | Last Modified: 8 Oct 2019, 9:21 a.m.
Panel Version: 1.198
IKBKG rated as Green as has a relevant phenotype to be included on the panel following discussion in Genomics England Clinical Team Meeting, 7th October 2019.Created: 7 Oct 2019, 4:26 p.m. | Last Modified: 7 Oct 2019, 4:26 p.m.
Panel Version: 1.194
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
Incontinentia pigmenti, 308300
Phenotypes for gene: IKBKG were changed from Incontinentia pigmenti, 308300 to Incontinentia pigmenti, OMIM:308300
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)
Phenotypes for gene: IKBKG were changed from Incontinentia pigmenti, 308300 to Incontinentia pigmenti, 308300
Phenotypes for gene: IKBKG were changed from to Incontinentia pigmenti, 308300
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)
Gene: ikbkg has been classified as Green List (High Evidence).
gene: IKBKG was added gene: IKBKG was added to Retinal disorders. Sources: NHS GMS Mode of inheritance for gene: IKBKG was set to