| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy v0.47 | ICK | Zornitza Stark Marked gene: ICK as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy v0.47 | ICK | Zornitza Stark Gene: ick has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy v0.47 | ICK | Zornitza Stark Phenotypes for gene: ICK were changed from to Endocrine-cerebroosteodysplasia (MIM#612651) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy v0.46 | ICK | Zornitza Stark Publications for gene: ICK were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy v0.45 | ICK | Zornitza Stark Mode of inheritance for gene: ICK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy v0.11 | ICK | Crystle Lee edited their review of gene: ICK: Changed publications: 19185282, 27069622, 27466187, 24797473, 24853502 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy v0.11 | ICK |
Crystle Lee changed review comment from: 3 families reported, functional studies and animal models. 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; to: 3 families reported, functional studies and animal models. 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 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy v0.11 | ICK |
Crystle Lee changed review comment from: 3 families reported, functional studies and animal models. 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:27069622; 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; to: 3 families reported, functional studies and animal models. 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 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy v0.11 | ICK | Crystle Lee reviewed gene: ICK: Rating: GREEN; Mode of pathogenicity: None; Publications: 19185282, 27069622, 27069622, 24797473, 24853502; Phenotypes: Endocrine-cerebroosteodysplasia (MIM#612651); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy v0.0 | ICK |
Zornitza Stark gene: ICK was added gene: ICK was added to Short Rib Polydactyly, Jeune Asphyxiating Thoracic Dystrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ICK was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||