Neurotransmitter Defects
Gene: ARHGEF9

ARHGEF9 (Cdc42 guanine nucleotide exchange factor 9)
EnsemblGeneIds (GRCh38): ENSG00000131089
EnsemblGeneIds (GRCh37): ENSG00000131089
OMIM: 300429, Gene2Phenotype
ARHGEF9 is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Not a primary neurotransmitter defect. The ARHGEF9 gene encodes collybistin, a brain-specific guanine nucleotide exchange factor (GEF) that belongs to a family of Rho-like GTPases. Collybistin has a pivotal role in the formation of postsynaptic glycine and inhibitory GABA receptor clusters, but measurable neurotransmitter abnormalities are not part of the phenotype.
Created: 23 Aug 2020, 5:50 a.m. | Last Modified: 23 Aug 2020, 5:50 a.m.

Panel Version: 0.14

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Epileptic encephalopathy, early infantile, 8, MIM# 300607

Publications

Created: 23 Aug 2020, 5:50 a.m.
Last Modified: 23 Aug 2020, 5:50 a.m.
Panel version: 0.14

Details

Mode of Inheritance

X-LINKED: hemizygous mutation in males, biallelic mutations in females

Sources

Expert Review Red
Victorian Clinical Genetics Services

Phenotypes

Epileptic encephalopathy, early infantile, 8, MIM# 300607

OMIM

300429

Clinvar variants

Variants in ARHGEF9

Penetrance

None

Publications

Panels with this gene