C21orf59

chromosome 21 open reading frame 59
OMIM: 615494, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Green C21orf59 in Primary ciliary disorders

Level 3: Respiratory ciliopathies
Level 2: Ciliopathies
Version 1.56

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ciliary dyskinesia, primary, 26, 615500
Tags
  • new-gene-name
Green C21orf59 in Laterality disorders and isomerism


Level 2: Respiratory
Version 4.10
Latest signed off version: v4.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ciliary dyskinesia, primary, 26, 615500
Tags
  • new-gene-name
Green C21orf59 in Respiratory ciliopathies including non-CF bronchiectasis


Level 2: Respiratory
Version 4.55
Latest signed off version: v4.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ciliary dyskinesia, primary, 26, 615500
Tags
  • new-gene-name
Green C21orf59 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.138
Latest signed off version: v6.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Ciliary dyskinesia, primary, 26, OMIM:615500
  • Primary ciliary dyskinesia 26, MONDO:0014211
Tags
  • new-gene-name
Green C21orf59 in DDG2P


Version 6.424
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • PRIMARY CILIARY DYSKINESIA
    Tags
    • new-gene-name
    Red C21orf59 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 Red
    • Radboud University Medical Center, Nijmegen
    • Expert list
    Phenotypes
    • Ciliary dyskinesia, primary, 26, 615500
    Tags
    • new-gene-name