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| Ectodermal Dysplasia v0.101 | ICK | Zornitza Stark Marked gene: ICK as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal Dysplasia v0.101 | ICK | Zornitza Stark Gene: ick has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal Dysplasia v0.101 | ICK | Zornitza Stark Phenotypes for gene: ICK were changed from Cranioectodermal dysplasia MONDO:0009032 to Cranioectodermal dysplasia 6, MIM# 621337 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal Dysplasia v0.100 | ICK | Zornitza Stark reviewed gene: ICK: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Cranioectodermal dysplasia 6, MIM# 621337; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal Dysplasia v0.100 | ICK | Chirag Patel Classified gene: ICK as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal Dysplasia v0.100 | ICK | Chirag Patel Gene: ick has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal Dysplasia v0.99 | ICK |
Chirag Patel gene: ICK was added gene: ICK was added to Ectodermal Dysplasia. Sources: Literature Mode of inheritance for gene: ICK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ICK were set to PMID: 40615527, 24797473 Phenotypes for gene: ICK were set to Cranioectodermal dysplasia MONDO:0009032 Review for gene: ICK was set to AMBER Added comment: 5 individuals from 2 families (from the same city - Tal Afar) with disproportionately short stature, skeletal abnormalities (short limbs, relative macrocephaly, digit anomalies), ectodermal dysplasia (dental/nail/hair issues), renal issues (hyperechogenic kidneys, dilated renal pelvis, CKD/kidney failure), and liver complications (abnormal enzymes, liver failure). All the patients survived into childhood. Exome sequencing identified the same homozygous frameshift variant (p.(Tyr555Cysfs*48) in ICK (CILK1) gene in the distal part of the non-catalytic domain. Functional data from patient-derived cells and the C. elegans model indicate that the variant reduces cilia number, increases cilia length, and disrupts the localization of IFT components. In contrast, the ciliary localization of CILK1 bearing the variant itself remains unaffected. They rescued the majority of these abnormalities by reintroducing CILK1 into patient-derived cells. Note ICK gene is green on multiple panels for Endocrine-cerebro-osteodysplasia syndrome MONDO:0012980 (3 families reported, homozygous missense variants in catalytic domain, supportive functional studies and animal models). PMID: 24797473 - Ick deficient mice showed ciliary defects. Authors concluded that ICK is required for normal ciliogenesis. Sources: Literature |
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