ICK

intestinal cell kinase
OMIM: 612325, Gene2Phenotype

12 panels

Panel Reviews Mode of inheritance Details
12 panels

Green ICK in Skeletal Dysplasia_Fetal


Level 2: Skeletal disorders
Version 0.233

review Unknown
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Expert list
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship

Green ICK in Ciliopathies


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.85

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Endocrine-cerebroosteodysplasia (MIM#612651)
  • Cranioectodermal dysplasia 6, MIM# 621337
Tags
  • new gene name

Amber ICK in Joubert syndrome and other neurological ciliopathies


Level 2: Neurology and neurodevelopmental disorders
Version 1.28

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • Endocrine-cerebroosteodysplasia (MIM#612651)

Green ICK in Mendeliome


Version 1.3098

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
  • Victorian Clinical Genetics Services
Phenotypes
  • Endocrine-cerebroosteodysplasia (MIM#612651)
Tags
  • new gene name

Green ICK in Polydactyly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.291

Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Endocrine-cerebroosteodysplasia, MIM# 612651

    Green ICK in Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy


    Level 2: Skeletal disorders
    Version 1.15

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Endocrine-cerebroosteodysplasia (MIM#612651)

    Amber ICK in Renal Ciliopathies and Nephronophthisis


    Level 2: Renal and urinary tract disorders
    Version 1.37

    Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • Renal Cystic Disease_SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Endocrine-cerebroosteodysplasia, MIM# 612651
    • Cranioectodermal dysplasia 6, MIM# 621337

    Green ICK in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.558

    review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green ICK in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.318

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review
    • UKGTN
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • NHS GMS
    • Expert list
    • Emory Genetics Laboratory
    Phenotypes
    • Endocrine-cerebroosteodysplasia 612651

    Amber ICK in Ectodermal Dysplasia


    Level 2: Dermatological disorders
    Version 0.102

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Cranioectodermal dysplasia 6, MIM# 621337

    Green ICK in Clefting disorders

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.270

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • ECO
    • Endocrine-cerebroosteodysplasia, 612651 (includes cleft lip, cleft palate)

    Green ICK in Fetal anomalies


    Version 1.413

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Expert list
    Phenotypes
    • Endocrine-cerebroosteodysplasia, OMIM:612651
    • Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980