PanelApp (staging)
  1. Genes and Genomic Entities
  2. EFCAB7

EFCAB7

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

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber EFCAB7 in Mendeliome


Version 1.2302

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 0.281

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