CFAP53

cilia and flagella associated protein 53
OMIM: 614759, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green CFAP53 in Ciliary Dyskinesia


Level 2: Respiratory disorders
Version 1.47

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Heterotaxy, visceral, 6, autosomal recessive 614779

Red CFAP53 in Ciliopathies


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.62

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Heterotaxy, visceral, 6, autosomal recessive 614779

Green CFAP53 in Heterotaxy


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.36

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Heterotaxy, visceral, 6, autosomal recessive 614779

Green CFAP53 in Mendeliome


Version 1.2374

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Heterotaxy, visceral, 6, autosomal recessive 614779

Green CFAP53 in Fetal anomalies


Version 1.314

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Literature
Phenotypes
  • Heterotaxy, visceral, 6, autosomal recessive 614779