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Limb disorders

Gene: ICK

No list

ICK (intestinal cell kinase)
EnsemblGeneIds (GRCh38): ENSG00000112144
EnsemblGeneIds (GRCh37): ENSG00000112144
OMIM: 612325, Gene2Phenotype
ICK is in 10 panels

2 reviews

Eleanor Williams (Genomics England Curator)

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)

Green List (high evidence)

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
  • ECO
  • Short-rib thoracic dysplasia with polydactyly
  • Rhizomelia
  • Polydactyly
  • SRTD
  • Mesomelia
  • Endocrine-cerebroosteodysplasia, 612651
OMIM
612325
Clinvar variants
Variants in ICK
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Dec 2018, Gel status: 0

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Rebecca Foulger: At least three unrelated cases

2 Dec 2018, Gel status: 0

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: ick has been removed from the panel.

2 Dec 2018, Gel status: 0

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)

7 Nov 2018, Gel status: 4

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: ick has been classified as Green List (High Evidence).

7 Nov 2018, Gel status: 3

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)

13 Aug 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ICK was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services

13 Aug 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

ICK was created by Ellen McDonagh