KIAA0586

KIAA0586
OMIM: 610178, Gene2Phenotype

16 panels

Panel Reviews Mode of inheritance Details
16 panels

Green KIAA0586 in Skeletal Dysplasia_Fetal


Level 2: Skeletal disorders
Version 0.230

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
  • Other
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
Phenotypes
  • Joubert syndrome 23 MIM#616490
  • Short-rib thoracic dysplasia 14 with polydactyly MIM#616546

Green KIAA0586 in Ciliopathies


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.62

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • Joubert syndrome 23 616490
  • Short-rib thoracic dysplasia 14 with polydactyly 616546
Tags
  • new gene name

Green KIAA0586 in Hydrocephalus_Ventriculomegaly


Level 2: Neurology and neurodevelopmental disorders
Version 0.127

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

Red KIAA0586 in Hydrops fetalis


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.324

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Other
Phenotypes
  • Hydrolethalus
  • short rib polydactyly

Green KIAA0586 in Joubert syndrome and other neurological ciliopathies


Level 2: Neurology and neurodevelopmental disorders
Version 1.28

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Joubert syndrome 23 616490
  • Short-rib thoracic dysplasia 14 with polydactyly 616546
Tags
  • new gene name

Green KIAA0586 in Mendeliome


Version 1.2374

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Joubert syndrome 23, MIM# 616490
  • Short-rib thoracic dysplasia 14 with polydactyly, MIM# 616546

Green KIAA0586 in Polydactyly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.281

Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Amber KIAA0586 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 Amber
    • Victorian Clinical Genetics Services
    Phenotypes
    • Short-rib thoracic dysplasia 14 with polydactyly, MIM# 616546

    Red KIAA0586 in Renal Ciliopathies and Nephronophthisis


    Level 2: Renal and urinary tract disorders
    Version 1.26

    Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • Renal Cystic Disease_SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    • KidGen_CilioNephronop v38.1.0
    • Victorian Clinical Genetics Services
    Phenotypes
    • Short-rib thoracic dysplasia 14 with polydactyly, MIM# 616546
    • Joubert syndrome 23, MIM# 616490

    Green KIAA0586 in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.540

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

    Green KIAA0586 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.83

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Joubert syndrome 23 MIM#616490
    Tags
    • new gene name

    Green KIAA0586 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.305

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Joubert syndrome 23 MIM#616490
    • Short-rib thoracic dysplasia 14 with polydactyly MIM#616546

    Green KIAA0586 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Short-rib thoracic dysplasia 14 with polydactyly, 616546 (3), Autosomal recessive

    Green KIAA0586 in Clefting disorders

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.260

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • SRTD14
    • SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY

    Green KIAA0586 in Fetal anomalies


    Version 1.314

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Literature
    • Other
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
    Phenotypes
    • Joubert syndrome 23 616490
    • Short-rib thoracic dysplasia 14 with polydactyly 616546
    • Hydrolethalus

    Green KIAA0586 in Prepair 1000+


    Level 2: Screening
    Version 1.1586

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Short-rib thoracic dysplasia 14 with polydactyly (MIM#616546)
    • Joubert syndrome 23 (MIM#616490)