ARHGEF2

Rho/Rac guanine nucleotide exchange factor 2
OMIM: 607560, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Red ARHGEF2 in Mendeliome


Version 1.4516

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • neurodevelopmental disorder with midbrain and hindbrain malformations MONDO:0056797

Red ARHGEF2 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.691

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Literature
Phenotypes
  • neurodevelopmental disorder with midbrain and hindbrain malformations MONDO:0056797