EFCAB1

EF-hand calcium binding domain 1
Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green EFCAB1 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
  • Literature
Phenotypes
  • Ciliary dyskinesia, primary, 53, OMIM:620642
Tags
  • new-gene-name
  • gene-checked
Green EFCAB1 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.140
Latest signed off version: v6.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ciliary dyskinesia, primary, 53, OMIM:620642
Tags
  • new-gene-name
  • gene-checked