ARHGEF40

Rho guanine nucleotide exchange factor 40
OMIM: 610018, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Amber ARHGEF40 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.187
Latest signed off version: v6.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Congenital anomalies and developmental delay
Amber ARHGEF40 in Intellectual disability


Level 2: Developmental disorders
Version 9.378
Latest signed off version: v9.0 (30 Apr 2025)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • developmental delay
    Tags
    • watchlist