C7orf43

chromosome 7 open reading frame 43
Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber C7orf43 in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Microcephaly 25, primary, autosomal recessive, MIM# 618351

Amber C7orf43 in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.269

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Microcephaly 25, primary, autosomal recessive, MIM# 618351
Tags
  • new gene name

Amber C7orf43 in Fetal anomalies


Version 1.255

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Microcephaly 25, primary, autosomal recessive, MIM# 618351
Tags
  • new gene name