Retinitis pigmentosa_Autosomal Recessive/X-linked
Gene: ARHGEF18

ARHGEF18 (Rho/Rac guanine nucleotide exchange factor 18)
EnsemblGeneIds (GRCh38): ENSG00000104880
EnsemblGeneIds (GRCh37): ENSG00000104880
OMIM: 616432, Gene2Phenotype
ARHGEF18 is in 2 panels

1 review

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Classified Moderate by ClinGen Retina GCEP on 07/11/2024 - https://search.clinicalgenome.org/CCID:008490

Variants have been reported in 3 probands and supportive functional assays have been conducted.
Created: 17 Dec 2024, 1:46 a.m. | Last Modified: 17 Dec 2024, 1:46 a.m.

Panel Version: 0.155

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
inherited retinal dystrophy MONDO:0019118

Publications

Created: 17 Dec 2024, 1:46 a.m.
Last Modified: 17 Dec 2024, 1:46 a.m.
Panel version: 0.155

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Royal Melbourne Hospital

Phenotypes

Retinitis pigmentosa 78 617433

OMIM

616432

Clinvar variants

Variants in ARHGEF18

Penetrance

None

Panels with this gene

History Filter Activity

23 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: ARHGEF18 was added gene: ARHGEF18 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: ARHGEF18 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ARHGEF18 were set to Retinitis pigmentosa 78 617433

Retinitis pigmentosa_Autosomal Recessive/X-linked Gene: ARHGEF18