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DDG2P

Gene: ARHGEF9

Red List (low evidence)

ARHGEF9 (Cdc42 guanine nucleotide exchange factor 9)
EnsemblGeneIds (GRCh38): ENSG00000131089
EnsemblGeneIds (GRCh37): ENSG00000131089
OMIM: 300429, Gene2Phenotype
ARHGEF9 is in 5 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: possible.
Created: 19 Nov 2018, 11:29 a.m.

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • DD-Gene2Phenotype
  • Expert Review Red
Phenotypes
  • EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 8 300607
OMIM
300429
Clinvar variants
Variants in ARHGEF9
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: possibl

19 Nov 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: ARHGEF9 was added gene: ARHGEF9 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: ARHGEF9 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: ARHGEF9 were set to 21633362 Phenotypes for gene: ARHGEF9 were set to EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 8 300607