EFCAB1

EF-hand calcium binding domain 1
Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green EFCAB1 in Ciliary Dyskinesia


Level 2: Respiratory disorders
Version 1.39

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Ciliary dyskinesia, primary, 53, MIM# 620642
Tags
  • new gene name

Green EFCAB1 in Heterotaxy


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.32

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Ciliary dyskinesia, primary, 53, MIM# 620642
Tags
  • new gene name

Green EFCAB1 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Ciliary dyskinesia, primary, 53, MIM# 620642
Tags
  • new gene name

Green EFCAB1 in Fetal anomalies


Version 1.255

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Ciliary dyskinesia, primary, 53, MIM# 620642
Tags
  • new gene name