VACTERL-like phenotypes

Gene: ARHGAP31

Red List (low evidence)

ARHGAP31 (Rho GTPase activating protein 31)
EnsemblGeneIds (GRCh38): ENSG00000031081
EnsemblGeneIds (GRCh37): ENSG00000031081
OMIM: 610911, Gene2Phenotype
ARHGAP31 is in 7 panels

1 review

Muriel Holder (Clinical Genetics, Guy's Hospital)

Red List (low evidence)

Details

Sources
  • Emory Genetics Laboratory
Phenotypes
  • Skeletal dysplasias are a heterogeneous group of more than 450 disorders with complex mechanisms.
OMIM
610911
Clinvar variants
Variants in ARHGAP31
Penetrance
Complete
Panels with this gene

History Filter Activity

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

ARHGAP31 was added to VACTERL-like phenotypepanel. Sources: Emory Genetics Laboratory