Limb disordersGene: ICK
Comment on list classification: Gene made grey as it is green on the Rare multisystem ciliopathy disorders panel (v1.78) and the ciliopathy panel will be applied if a patient is suspected of having a ciliopathy, or the possibility of a ciliopathy cannot be excluded.
Created: 2 Dec 2018, 10:53 p.m.
At least three unrelated cases (and 3 variants) of polydactyly presenting with Endocrine-cerebroosteodysplasia (ECO)/Short-rib thoracic dysplasia (SRTD) from PMIDs 19185282, 27069622 and 27466187. Therefore sufficient cases to support gene:disease relationship.
Created: 7 Nov 2018, 1:26 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Polydactyly; Endocrine-cerebroosteodysplasia, 612651; ECO; Short-rib thoracic dysplasia with polydactyly; SRTD; Rhizomelia; Mesomelia
Rebecca Foulger: At least three unrelated cases
Gene: ick has been removed from the panel.
Source Expert Review Removed was added to ICK. Rating Changed from Green List (high evidence) to No List (delete)
Gene: ick has been classified as Green List (High Evidence).
Source Expert Review Green was added to ICK. Mode of inheritance for gene ICK was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes ECO; Rhizomelia; Short-rib thoracic dysplasia with polydactyly; Polydactyly; SRTD; Mesomelia; Endocrine-cerebroosteodysplasia, 612651 for gene: ICK Publications for gene ICK were changed from to 27466187; 27069622; 19185282 Rating Changed from Red List (low evidence) to Green List (high evidence)
ICK was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services
ICK was created by Ellen McDonagh