KIAA0586

KIAA0586
OMIM: 610178, Gene2Phenotype

17 panels

Panel Reviews Mode of inheritance Details
17 panels

Green KIAA0586 in Hydrocephalus


Version 2.116
Latest signed off version: v2.3 (2 Mar 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Short-rib thoracic dysplasia 14 with polydactyly, OMIM:616546

Green KIAA0586 in Thoracic dystrophies

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.12

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY, SRTD14 #616546

No list KIAA0586 in Limb disorders


Version 2.57
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Removed
    • Victorian Clinical Genetics Services
    • Other
    Phenotypes
    • Short-rib thoracic dysplasia 14 with polydactyly 616546
    • Polydactyly
    • Joubert syndrome 23 616490
    Tags
    • curated_removed

    No list KIAA0586 in Ductal plate malformation


    Version 1.18

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Removed
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Joubert syndrome 23 (616490)
    Tags
    • curated_removed

    Green KIAA0586 in Unexplained paediatric onset end-stage renal disease


    Version 1.20
    Latest signed off version: v1.2 (4 Mar 2020)

    Component of the following Super Panels:

  • Renal superpanel - broad
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Joubert syndrome 23
    • Joubert syndrome
    • Short-rib thoracic dysplasia 14 with polydactyly
    • Short-rib dysplasia 14 with polydactyly

    Green KIAA0586 in Fetal anomalies


    Version 1.717
    Latest signed off version: v1.92 (21 Aug 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • JOUBERT SYNDROME

    Green KIAA0586 in DDG2P


    Version 2.46
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • JOUBERT SYNDROME 614615

    Green KIAA0586 in Clefting

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 2.49
    Latest signed off version: v2.2 (4 Mar 2020)

    Component of the following Super Panels:

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

    Green KIAA0586 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1306
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Joubert syndrome 23 616490

    Amber KIAA0586 in Structural eye disease


    Version 1.81
    Latest signed off version: v1.3 (4 Mar 2020)

    review Not set
    Sources
    • Expert Review Amber
    • Expert list

    Green KIAA0586 in Rare multisystem ciliopathy disorders

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.146

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Other
    • Expert Review Green
    • Expert list
    Phenotypes
    • Joubert syndrome
    • Short-rib dysplasia 14 with polydactyly
    • Short-rib thoracic dysplasia 14 with polydactyly
    • Joubert syndrome 23

    Green KIAA0586 in Ophthalmological ciliopathies


    Version 1.19
    Latest signed off version: v1.3 (19 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • Other
    Phenotypes
    • Joubert syndrome 23
    • Joubert syndrome
    • Short-rib thoracic dysplasia 14 with polydactyly
    • Short-rib dysplasia 14 with polydactyly

    Green KIAA0586 in Neurological ciliopathies

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.18
    Latest signed off version: v1.5 (4 Mar 2020)

    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
    Phenotypes
    • Joubert syndrome 23
    • Joubert syndrome
    • Short-rib thoracic dysplasia 14 with polydactyly
    • Short-rib dysplasia 14 with polydactyly

    Green KIAA0586 in Renal ciliopathies

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.42
    Latest signed off version: v1.2 (4 Mar 2020)

    Component of the following Super Panels:

  • Cystic renal disease
  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel
  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • Other
    Phenotypes
    • Joubert syndrome 23
    • Joubert syndrome
    • Short-rib thoracic dysplasia 14 with polydactyly
    • Short-rib dysplasia 14 with polydactyly

    No list KIAA0586 in Skeletal ciliopathies

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.10
    Latest signed off version: v1.2 (19 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert list
    Phenotypes
    • Short-rib thoracic dysplasia 14 with polydactyly, MIM# 616546

    Red KIAA0586 in Childhood onset dystonia or chorea or related movement disorder


    Version 1.156
    Latest signed off version: v1.137 (5 Aug 2021)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PanelApp
    • Expert Review Red
    • London North GLH
    Phenotypes
    • Short-rib dysplasia 14 with polydactyly
    • Short-rib thoracic dysplasia 14 with polydactyly
    • Joubert syndrome 23
    • Joubert syndrome

    Green KIAA0586 in Severe Paediatric Disorders


    Version 1.84

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Short-rib thoracic dysplasia 14 with polydactyly, 616546
    • Joubert syndrome 23, 616490