1. Genes and Genomic Entities
  2. ICK

ICK

intestinal cell kinase
OMIM: 612325, Gene2Phenotype

12 panels

Panel Reviews Mode of inheritance Details
12 panels
Amber ICK in Hydrocephalus


Level 2: Neurology
Version 5.8
Latest signed off version: v5.0 (7 Aug 2024)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Amber
  • Literature
Phenotypes
  • Endocrine-cerebroosteodysplasia, OMIM:612651
  • Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980
Tags
  • watchlist
  • new-gene-name
Green ICK in Thoracic dystrophies

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.24

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Endocrine-cerebroosteodysplasia, OMIM:612651
  • Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980
Tags
  • new-gene-name
No list ICK in Limb disorders


Level 2: Musculoskeletal
Version 7.20
Latest signed off version: v7.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Removed
    • Victorian Clinical Genetics Services
    Phenotypes
    • Endocrine-cerebroosteodysplasia, OMIM:612651
    • Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980
    Tags
    • new-gene-name
    • curated_removed
    Green ICK in Skeletal dysplasia


    Level 2: Musculoskeletal
    Version 8.34
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Expert list
    • Emory Genetics Laboratory
    Phenotypes
    • Endocrine-cerebroosteodysplasia, OMIM:612651
    • Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980
    Tags
    • new-gene-name
    Green ICK in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Endocrine-cerebroosteodysplasia, OMIM:612651
    • Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980
    Tags
    • new-gene-name
    No list ICK in Osteogenesis imperfecta


    Level 2: Musculoskeletal
    Version 5.4
    Latest signed off version: v5.0 (30 Apr 2025)

    		review Not set
    Sources
    • Expert Review Removed
    • Emory Genetics Laboratory
    Phenotypes
    • Endocrine-cerebroosteodysplasia, OMIM:612651
    • Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980
    Tags
    • new-gene-name
    • curated_removed
    Green ICK in Clefting


    Level 2: Musculoskeletal
    Version 6.20
    Latest signed off version: v6.5 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Endocrine-cerebroosteodysplasia, OMIM:612651
    • Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980
    Tags
    • new-gene-name
    Green ICK in Rare multisystem ciliopathy disorders

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.180

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Endocrine-cerebroosteodysplasia, OMIM:612651
    • Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980
    Tags
    • new-gene-name
    Green ICK in Neurological ciliopathies


    Level 2: Neurology
    Version 6.13
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    • Literature
    Phenotypes
    • Endocrine-cerebroosteodysplasia, OMIM:612651
    • Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980
    Tags
    • new-gene-name
    Green ICK in Renal ciliopathies


    Level 2: Renal
    Version 4.7
    Latest signed off version: v4.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Cystic renal disease
  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel
  • Unexplained young onset end-stage renal disease

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    • Expert Review Green
    • Literature
    Phenotypes
    • Endocrine-cerebroosteodysplasia, OMIM:612651
    • Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980
    Tags
    • new-gene-name
    • watchlist
    Green ICK in Skeletal ciliopathies


    Level 2: Musculoskeletal
    Version 6.5
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    • Expert Review Green
    • Literature
    Phenotypes
    • Endocrine-cerebroosteodysplasia, OMIM:612651
    • Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980
    Tags
    • new-gene-name
    Red ICK in Childhood onset dystonia, chorea or related movement disorder


    Level 2: Neurology
    Version 7.13
    Latest signed off version: v7.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PanelApp
    • Expert Review Red
    • London North GLH
    Phenotypes
    • Endocrine-cerebroosteodysplasia, OMIM:612651
    • Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980
    Tags
    • new-gene-name