Activity
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12 actions
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| Autoinflammatory disorders v2.34 | IKBKG |
Achchuthan Shanmugasundram Tag Q2_25_ promote_green was removed from gene: IKBKG. Tag Q2_25_ NHS_review was removed from gene: IKBKG. |
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| Autoinflammatory disorders v2.34 | IKBKG | Achchuthan Shanmugasundram reviewed gene: IKBKG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v2.33 | IKBKG |
Achchuthan Shanmugasundram Source NHS GMS was added to IKBKG. Source Expert Review Green was added to IKBKG. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Autoinflammatory disorders v2.17 | IKBKG | Arina Puzriakova Publications for gene: IKBKG were set to PMID: 35289316 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v2.16 | IKBKG | Arina Puzriakova Classified gene: IKBKG as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v2.16 | IKBKG |
Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update. Variants in the IKBKG gene (also known as NEMO) can be linked to a autoinflammatory disorder characterised by the onset of systemic autoinflammation in the first months of life. Clinical manifestations are variable but include lymphadenopathy, hepatosplenomegaly, fever, panniculitis, and nodular skin rash. At least 9 unrelated cases have been reported, including two females (PMID: 31874111; 35120036; 35289316; 39264518). |
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| Autoinflammatory disorders v2.16 | IKBKG | Arina Puzriakova Gene: ikbkg has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v2.15 | IKBKG | Arina Puzriakova Phenotypes for gene: IKBKG were changed from Autoinflammatory disease, systemic, X-linked to Autoinflammatory disease, systemic, X-linked, OMIM:301081 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v2.14 | IKBKG |
Arina Puzriakova Tag Q2_25_ promote_green tag was added to gene: IKBKG. Tag Q2_25_ NHS_review tag was added to gene: IKBKG. |
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| Autoinflammatory disorders v2.5 | IKBKG | Dorota Rowczenio reviewed gene: IKBKG: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35120036, PMID: 35289316, PMID: 20133626, PMID: 21722947, PMID: 35163099, PMID: 39264518; Phenotypes: Autoinflammatory disease, systemic, X-linked; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v2.3 | IKBKG |
Dmitrijs Rots changed review comment from: exon 5 skipping of IKBKG (NEMO) result in autoinflammatory disorder. Already in OMIM: 301081. Sources: Other; to: exon 5 skipping of IKBKG (NEMO) result in autoinflammatory disorder. Already in OMIM: 301081. LoF variants causes X-linked incontinentia pigmenti. Sources: Other. |
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| Autoinflammatory disorders v2.3 | IKBKG |
Dmitrijs Rots gene: IKBKG was added gene: IKBKG was added to Autoinflammatory disorders. Sources: Other 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 PMID: 35289316 Phenotypes for gene: IKBKG were set to Autoinflammatory disease, systemic, X-linked Penetrance for gene: IKBKG were set to unknown Mode of pathogenicity for gene: IKBKG was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: IKBKG was set to GREEN Added comment: exon 5 skipping of IKBKG (NEMO) result in autoinflammatory disorder. Already in OMIM: 301081. Sources: Other |
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