PanelApp (test)
  1. Genes and Genomic Entities
  2. EFCAB7:Ensemblv90

EFCAB7:Ensemblv90

EF-hand calcium binding domain 7
OMIM: 617632, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber EFCAB7 in Mendeliome


Version 1.3802

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Polydactyly (MONDO:0021003), EFCAB7-related

Amber EFCAB7 in Polydactyly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.297

Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Polydactyly (MONDO:0021003), EFCAB7-related

    Amber EFCAB7 in Polydactyly


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    • Expert Review Amber
    Phenotypes
    • Polydactyly (MONDO:0021003), EFCAB7-related