ZNF423

zinc finger protein 423
OMIM: 604557, Gene2Phenotype

16 panels

Panel Reviews Mode of inheritance Details
16 panels
Red ZNF423 in Glaucoma (developmental)

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.45

review Not set
Sources
  • NHS GMS
  • Emory Genetics Laboratory
Phenotypes
  • Eye Disorders
Red ZNF423 in Thoracic dystrophies

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.20

review Not set
Sources
  • Emory Genetics Laboratory
Amber ZNF423 in Tubulointerstitial kidney disease


Version 3.3
Latest signed off version: v3.0 (22 Mar 2023)

Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • NHS GMS
    Phenotypes
    • Joubert syndrome 19, OMIM:614844
    • Nephronophthisis 14, OMIM:614844
    Amber ZNF423 in Cystic kidney disease

    Level 3: Structural renal and urinary tract disease
    Level 2: Renal and urinary tract disorders
    Version 4.24
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Cystic renal disease
  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert
    Phenotypes
    • Joubert syndrome 19, OMIM:614844
    • Nephronophthisis 14, OMIM:614844
    Red ZNF423 in Unexplained kidney failure in young people

    Level 3: Disorders of function
    Level 2: Renal and urinary tract disorders
    Version 1.118

    Component of the following Super Panels:

  • Renal superpanel - broad
  • review Not set
    Sources
    • Expert Review Red
    • Expert
    Phenotypes
    • Joubert syndrome 19, OMIM:614844
    • Nephronophthisis 14, OMIM:614844
    Red ZNF423 in Primary ciliary disorders

    Level 3: Respiratory ciliopathies
    Level 2: Ciliopathies
    Version 1.42

    review Not set
    Sources
    • Emory Genetics Laboratory
    Phenotypes
    • ciliopathies
    Red ZNF423 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 4.56
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders
  • review Not set
    Sources
    • Emory Genetics Laboratory
    Red ZNF423 in Unexplained young onset end-stage renal disease


    Version 3.40
    Latest signed off version: v3.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Renal superpanel - broad
  • review Unknown
    Sources
    • Expert Review Red
    Phenotypes
    • Joubert syndrome 19, OMIM:614844
    • Nephronophthisis 14, OMIM:614844
    Amber ZNF423 in Fetal anomalies


    Version 3.154
    Latest signed off version: v3.0 (22 Mar 2023)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • PAGE Additional Gene List
    Phenotypes
    • Nephronophthisis 14 614844
    • Joubert syndrome 19 614844
    Green ZNF423 in Retinal disorders

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 4.83
    Latest signed off version: v4.0 (22 Mar 2023)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Eye Disorders
    Red ZNF423 in Structural eye disease


    Version 3.77
    Latest signed off version: v3.0 (22 Mar 2023)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • Nephronophthisis 14, 614844
    • Joubert syndrome 19, 614844
    • Eye Disorders
    Amber ZNF423 in Rare multisystem ciliopathy disorders

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.170

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Other
    • Orphanet
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    • Expert list
    Phenotypes
    • Joubert syndrome 19, OMIM:614844
    • Nephronophthisis 14, OMIM:614844
    Amber ZNF423 in Ophthalmological ciliopathies


    Version 3.5
    Latest signed off version: v3.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Orphanet
    • Radboud University Medical Center, Nijmegen
    • Expert Review Amber
    • Expert list
    • Other
    • Emory Genetics Laboratory
    Phenotypes
    • Joubert syndrome 19, OMIM:614844
    • Nephronophthisis 14, OMIM:614844
    Amber ZNF423 in Neurological ciliopathies

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 3.18
    Latest signed off version: v3.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    Phenotypes
    • Joubert syndrome 19, OMIM:614844
    • Nephronophthisis 14, OMIM:614844
    Amber ZNF423 in Renal ciliopathies

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 3.5
    Latest signed off version: v3.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Cystic renal disease
  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel
  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Orphanet
    • Radboud University Medical Center, Nijmegen
    • Expert Review Amber
    • Expert list
    • Other
    • Emory Genetics Laboratory
    Phenotypes
    • Joubert syndrome 19, OMIM:614844
    • Nephronophthisis 14, OMIM:614844
    Red ZNF423 in Childhood onset dystonia, chorea or related movement disorder


    Version 3.75
    Latest signed off version: v3.0 (22 Mar 2023)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • PanelApp
    • Expert Review Red
    • London North GLH
    Phenotypes
    • Joubert syndrome 19, OMIM:614844
    • Nephronophthisis 14, OMIM:614844