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| DDG2P v3.12 | IKBKG | Achchuthan Shanmugasundram reviewed gene: IKBKG: Rating: GREEN; Mode of pathogenicity: ; Publications: 10839543, 16228229, 11242109, 11224521, 9450877, 15356572, 12045264, 14726382, 15577852, 117248, 16818673, 11047757; Phenotypes: ECTODERMAL DYSPLASIA ANHIDROTIC WITH IMMUNODEFICIENCY X-LINKED, OMIM:300291, INCONTINENTIA PIGMENTI, OMIM:308300; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | IKBKG | Achchuthan Shanmugasundram Publications for gene: IKBKG were updated from 16818673 to 10839543; 11242109; 16228229; 9450877; 11224521; 15356572; 12045264; 14726382; 15577852; 117248; 16818673; 11047757 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.48 | IKBKG | Rebecca Foulger Added comment: Comment on mode of inheritance: DDG2P records an MOI of hemizygous for ECTODERMAL DYSPLASIA ANHIDROTIC WITH IMMUNODEFICIENCY X-LINKED; ECTODERMAL DYSPLASIA ANHIDROTIC WITH IMMUNODEFICIENCY-OSTEOPETROSIS-LYMPHEDEMA; IMMUNODEFICIENCY NEMO-RELATED WITHOUT ANHIDROTIC ECTODERMAL DYSPLASIA; SUSCEPTIBILITY TO X-LINKED FAMILIAL ATYPICAL MICOBACTERIOSIS TYPE 1. DDG2P records an MOI of monoallelic for INCONTINENTIA PIGMENTI 308300. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.48 | 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) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | IKBKG | Rebecca Foulger reviewed gene: IKBKG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | IKBKG |
Rebecca Foulger Added phenotypes SUSCEPTIBILITY TO X-LINKED FAMILIAL ATYPICAL MICOBACTERIOSIS TYPE 1 300636 for gene: IKBKG Publications for gene IKBKG were changed from 12045264; 117248; 11224521; 11047757; 16228229; 14726382; 11242109 to 16818673 |
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| DDG2P v0.1 | IKBKG |
Rebecca Foulger Added phenotypes ECTODERMAL DYSPLASIA ANHIDROTIC WITH IMMUNODEFICIENCY X-LINKED 300291 for gene: IKBKG Publications for gene IKBKG were changed from 10839543; 9450877 to 12045264; 117248; 11224521; 11047757; 16228229; 14726382; 11242109 |
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| DDG2P v0.1 | IKBKG | Rebecca Foulger Added phenotypes ECTODERMAL DYSPLASIA ANHIDROTIC WITH IMMUNODEFICIENCY-OSTEOPETROSIS-LYMPHEDEMA 300301 for gene: IKBKG | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | IKBKG |
Rebecca Foulger Added phenotypes INCONTINENTIA PIGMENTI 308300 for gene: IKBKG Publications for gene IKBKG were changed from 15356572; 15577852 to 10839543; 9450877 |
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| DDG2P v0.1 | IKBKG |
Rebecca Foulger gene: IKBKG was added gene: IKBKG was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: IKBKG was set to X linked: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: IKBKG were set to 15356572; 15577852 Phenotypes for gene: IKBKG were set to IMMUNODEFICIENCY NEMO-RELATED WITHOUT ANHIDROTIC ECTODERMAL DYSPLASIA 300584 |
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