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| Joubert syndrome and other neurological ciliopathies v0.69 | ICK | Zornitza Stark Marked gene: ICK as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Joubert syndrome and other neurological ciliopathies v0.69 | ICK | Zornitza Stark Gene: ick has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Joubert syndrome and other neurological ciliopathies v0.69 | ICK | Zornitza Stark Classified gene: ICK as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Joubert syndrome and other neurological ciliopathies v0.69 | ICK | Zornitza Stark Gene: ick has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Joubert syndrome and other neurological ciliopathies v0.62 | ICK |
Crystle Lee gene: ICK was added gene: ICK was added to Joubert syndrome and other neurological ciliopathies. Sources: Expert Review Mode of inheritance for gene: ICK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ICK were set to 19185282; 27069622; 27466187; 24797473; 24853502 Phenotypes for gene: ICK were set to Endocrine-cerebroosteodysplasia (MIM#612651) Review for gene: ICK was set to AMBER Added comment: 3 families reported, functional studies and animal models. Primarily a skeletal ciliopathy and rare reports of brain and cerebellar malformations. Amber for this panel. PMID: 19185282; 6 affected from 2 Amish families with endocrine-cerebro-osteodysplasia (ECO) PMID: 27069622; A different variant reported in a Turkish fetus presenting with ECO and overlapping features of ciliopathies. Functional studies showed abnormal ciliary localization. PMID: 27466187; Additional variant identified in a patient with short rib polydactyly syndromes (SRPS). Functional studies showed that the variant caused ciliary defects PMID: 24797473; Ick deficient mice showed ciliary defects. Authors concluded that ICK is required for normal ciliogenesis PMID: 24853502; Ick knockout mice recapitulates clinical symptoms of ECO. Defects in ICK caused aberrant ciliogenesis Sources: Expert Review |
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