Limb disorders
Gene: ICKEnsemblGeneIds (GRCh38): ENSG00000112144
EnsemblGeneIds (GRCh37): ENSG00000112144
OMIM: 612325, Gene2Phenotype
ICK is in 12 panels
2 reviews
Eleanor Williams (Genomics England Curator)
Added new-gene-name tag, new approved HGNC gene symbol for ICK is CILK1Created: 25 Sep 2019, 10:04 a.m. | Last Modified: 25 Sep 2019, 10:04 a.m.
Panel Version: 1.58
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.
Rebecca Foulger (Genomics England curator)
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
Phenotypes
Polydactyly; Endocrine-cerebroosteodysplasia, 612651; ECO; Short-rib thoracic dysplasia with polydactyly; SRTD; Rhizomelia; Mesomelia
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Removed
- Victorian Clinical Genetics Services
- Phenotypes
-
- Endocrine-cerebroosteodysplasia, OMIM:612651
- Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980
- Tags
- OMIM
- 612325
- Clinvar variants
- Variants in ICK
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: ICK.
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: ICK were changed from ECO; Short-rib thoracic dysplasia with polydactyly; Rhizomelia; Polydactyly; SRTD; Mesomelia; Endocrine-cerebroosteodysplasia, 612651 to Endocrine-cerebroosteodysplasia, OMIM:612651; Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980
Added Tag
Eleanor Williams (Genomics England Curator)Tag new-gene-name tag was added to gene: ICK.
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)Rebecca Foulger: At least three unrelated cases
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: ick has been removed from the panel.
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source Expert Review Removed was added to ICK. Rating Changed from Green List (high evidence) to No List (delete)
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: ick has been classified as Green List (High Evidence).
Added New Source, Set mode of inheritance, Set Phenotypes, Set publications, Status Update
Eleanor Williams (Genomics England Curator)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)
Added New Source
Ellen McDonagh (Genomics England Curator)ICK was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services
Created
Ellen McDonagh (Genomics England Curator)ICK was created by Ellen McDonagh