CFAP53

cilia and flagella associated protein 53
OMIM: 614759, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Green CFAP53 in Familial non syndromic congenital heart disease

Level 3: Congenital heart disease
Level 2: Cardiovascular disorders
Version 1.80

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Visceral Heterotaxy
  • Heterotaxy, Visceral, 6, Autosomal
Green CFAP53 in Laterality disorders and isomerism


Version 3.9
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Heterotaxy, visceral, 6, autosomal recessive, 614779
Green CFAP53 in Fetal anomalies


Version 3.169
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
  • Literature
Phenotypes
  • Heterotaxy, visceral, 6, autosomal recessive
  • Dextrocardia
  • Transposition of the great arteries
  • gut malrotation
  • midline liver
  • inverted spleen
Green CFAP53 in Paediatric disorders - additional genes


Version 3.10
Latest signed off version: v3.0 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • South West GLH
    Phenotypes
    • Heterotaxy, visceral, 6, autosomal recessive
    Red CFAP53 in Rare multisystem ciliopathy disorders

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.172

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert list