EFCAB1:Ensemblv90

EF-hand calcium binding domain 1
ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green EFCAB1 in Ciliary Dyskinesia


Level 2: Respiratory disorders
Version 1.68

2 reviews 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 1.44

2 reviews 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 1.3802

2 reviews 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 1.482

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

Green EFCAB1 in Ciliary Dyskinesia


Level 2: Respiratory disorders
Version 2.0

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

Green EFCAB1 in Heterotaxy


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

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