- Panels
- Retinal disorders
- ARHGEF18
Genes in panel
- ABCA4 5
- ABCC6 3
- ABHD12 3
- ACBD5 5
- ACO2 5
- ADAM9 2
- ADAMTS18 2
- ADGRV1 3
- AFG3L2 4
- AGBL5 3
- AHI1 3
- AHR 6
- AIPL1 6
- AIRE 3
- ALDH3A2 2
- ALMS1 4
- ALPK1 4
- AMACR 2
- ARHGEF18 2
- ARL13B 5
- ARL2BP 2
- ARL3 1
- ARL6 2
- ARSG 4
- ATF6 3
- ATOH7 2
- BBS1 3
- BBS10 3
- BBS12 2
- BBS2 2
- BBS4 2
- BBS5 2
- BBS7 2
- BBS9 2
- BEST1 3
- C1QTNF5 2
- C21orf2 5
- C2orf71 4
- C8orf37 3
- CABP4 3
- CACNA1F 3
- CACNA2D4 5
- CAPN5 2
- CC2D2A 2
- CDH23 2
- CDH3 2
- CDHR1 3
- CEP164 2
- CEP250 2
- CEP290 4
- CEP78 2
- CERKL 3
- CFAP20 3
- CFH 2
- CHM 2
- CLEC3B 2
- CLN3 3
- CLN5 2
- CLN6 2
- CLN8 2
- CLRN1 2
- CNGA1 5
- CNGA3 3
- CNGB1 3
- CNGB3 3
- CNNM4 2
- COL11A1 4
- COL18A1 3
- COL2A1 6
- COL4A1 2
- COL9A1 4
- COL9A2 4
- COL9A3 2
- COQ2 2
- COQ8B 2
- CRB1 4
- CRX 3
- CSPP1 2
- CTC1 2
- CTNNA1 3
- CTNNB1 2
- CTNND1 2
- CTSD 2
- CWC27 3
- CYP4V2 3
- DCT 3
- DHDDS 2
- DRAM2 3
- DYNC2H1 3
- EFEMP1 3
- ELOVL4 2
- ERCC6 2
- ERCC8 2
- EYS 3
- FAM161A 3
- FAM57B 4
- FLVCR1 3
- FZD4 2
- GNAT1 2
- GNAT2 2
- GNB3 2
- GNPTG 2
- GPR143 5
- GPR179 3
- GRK1 3
- GRM6 3
- GRN 4
- GUCA1A 3
- GUCA1B 3
- GUCY2D 3
- HCCS 2
- HGSNAT 4
- HK1 4
- HMX1 2
- IDH3A 2
- IDH3B 2
- IFT140 2
- IFT172 2
- IFT27 3
- IFT74 2
- IKBKG 2
- IMPDH1 2
- IMPG1 5
- IMPG2 4
- INPP5E 2
- IQCB1 3
- JAG1 4
- KCNJ13 2
- KCNV2 4
- KIAA1549 6
- KIF11 2
- KIZ 3
- KLHL7 3
- LAMA1 2
- LAMP2 2
- LCA5 3
- LRAT 2
- LRIT3 2
- LRP2 3
- LRP5 3
- LZTFL1 2
- MAK 3
- MAN2B1 3
- MCOLN1 3
- MED12 2
- MERTK 3
- MFRP 3
- MFSD8 3
- MIR204 4
- MKKS 2
- MKS1 2
- MMACHC 2
- MPDZ 3
- MSTO1 3
- MT-ATP6 4
- MT-TL1 4
- MTTP 3
- MVK 8
- MYO7A 3
- NBAS 4
- NDP 2
- NEUROD1 2
- NMNAT1 3
- NPHP1 3
- NPHP3 4
- NPHP4 2
- NR2E3 3
- NRL 2
- NYX 2
- OAT 2
- OFD1 2
- OPN1LW 3
- OPN1MW 2
- OTX2 4
- P3H2 3
- PANK2 2
- PAX2 2
- PCDH15 4
- PCYT1A 5
- PDE6A 2
- PDE6B 3
- PDE6C 3
- PDE6G 2
- PDSS1 2
- PEX1 2
- PEX2 2
- PEX6 4
- PEX7 2
- PHYH 2
- PLA2G5 2
- PLK4 2
- PNPLA6 2
- POC1B 2
- POMGNT1 3
- POMT1 3
- PPT1 2
- PQLC2 2
- PRCD 2
- PRDM13 2
- PROM1 3
- PRPF3 2
- PRPF31 4
- PRPF4 2
- PRPF6 6
- PRPF8 3
- PRPH2 4
- PRPS1 2
- PYGM 3
- RAB28 2
- RAX2 4
- RBP3 4
- RBP4 3
- RCBTB1 3
- RD3 2
- RDH12 3
- RDH5 7
- REEP6 2
- RGR 5
- RGS9 2
- RHO 3
- RIMS2 2
- RLBP1 5
- RNU4ATAC 3
- ROM1 6
- RP1 5
- RP1L1 6
- RP2 3
- RP9 3
- RPE65 4
- RPGR 3
- RPGRIP1 3
- RPGRIP1L 2
- RS1 2
- SAG 4
- SAMD7 4
- SCAPER 2
- SDCCAG8 2
- SGSH 2
- SLC24A1 2
- SLC37A3 6
- SLC38A8 6
- SLC6A6 2
- SNRNP200 3
- SPATA7 3
- SRD5A3 2
- SSBP1 4
- STN1 2
- STX3 1
- SUMF1 3
- TIMM8A 2
- TIMP3 2
- TINF2 2
- TMEM216 3
- TMEM218 3
- TMEM231 2
- TMEM237 2
- TOPORS 4
- TPP1 2
- TRAF3IP1 2
- TREX1 2
- TRNT1 2
- TRPM1 3
- TSPAN12 3
- TTC21B 5
- TTC8 2
- TTLL5 2
- TUB 3
- TUBB4B 2
- TUBGCP4 2
- TUBGCP6 2
- TULP1 2
- UBAP1L 5
- UNC119 7
- USH1C 3
- USH1G 2
- USH2A 3
- USP45 2
- VCAN 3
- VPS13B 3
- WDPCP 4
- WDR19 2
- WHRN 4
- ZFYVE26 2
- ZNF408 2
- ZNF423 2
- ADIPOR1 1
- AP5B1 2
- AP5M1 2
- AP5Z1 2
- ASRGL1 1
- C12orf65 2
- C19orf44 2
- CCT2 1
- CEP19 1
- CLCC1 1
- CLUAP1 1
- COQ5 1
- CYP2R1 2
- CYP2U1 2
- DHX38 4
- DMD 1
- DYRK1A 2
- EGFLAM 2
- ELOVL1 1
- ESPN 1
- EXOSC2 1
- FRMD7 4
- GDF6 3
- GPATCH11 1
- IDH3G 1
- IFT81 2
- KIF3B 1
- LIG3 2
- LRRC32 2
- MAPKAPK3 1
- MORC2 2
- MT-TH 1
- MT-TP 1
- MT-TS2 1
- OPN1SW 1
- PAK2 1
- PAX6 5
- PDE6H 4
- PGK1 1
- POC5 3
- POMGNT2 2
- RDH11 2
- RNU4-2 1
- RNU6-1 1
- RNU6-2 1
- RNU6-8 1
- RNU6-9 1
- RTN4IP1 1
- SAMD11 1
- SEMA4A 3
- SLC25A46 1
- SPG11 3
- SPG7 2
- SPP2 1
- SPTLC1 2
- TBC1D32 1
- THRB 2
- TTPA 1
- VSX2 3
- VWA8 2
- ADGRA3 3
- AMN 2
- AP3B2 2
- ARMS2 2
- ATP13A2 2
- ATXN7 2
- B3GLCT 3
- BBIP1 2
- BCOR 1
- BMP4 1
- C2 1
- C3 1
- C5orf42 2
- CA4 4
- CCZ1B 2
- CEP41 1
- CFB 1
- CFI 2
- CIB2 4
- COL11A2 2
- COQ4 1
- CROCC 2
- CTSF 2
- CUBN 1
- CYP1B1 1
- CYP27A1 1
- DTHD1 3
- EMC1 3
- FAM71A 2
- FBLN5 1
- FOXC1 1
- FOXE3 1
- FOXI2 2
- FRAS1 1
- FREM1 1
- FREM2 1
- FSCN2 3
- FUT5 2
- GNPTAB 1
- GP1BA 1
- GRIP1 1
- HARS 5
- HKDC1 2
- HMCN1 1
- HTRA1 1
- INVS 3
- IRX5 4
- IRX6 2
- ITIH2 2
- ITM2B 3
- KCTD7 1
- KIF7 1
- LRMDA 3
- LRP1 2
- MFN2 1
- MT-ND1 1
- MT-ND4 1
- MT-ND6 2
- MYOC 1
- NAALADL1 2
- NEK2 3
- NR2F1 2
- NUMB 2
- OCA2 3
- OPA1 3
- OPA3 2
- OR2M7 2
- PDAP1 1
- PDZD7 1
- PITPNM3 3
- PITX2 1
- PITX3 1
- PLD4 2
- PODNL1 2
- POMZP3 2
- PRTFDC1 2
- PTBP1 1
- RB1 1
- RGS9BP 1
- RIMS1 3
- SLC24A5 2
- SLC45A2 2
- SLC7A14 1
- SMOC1 1
- SOX2 1
- SPTLC2 2
- STRA6 1
- TCTN1 1
- TCTN2 1
- TCTN3 1
- TEAD1 3
- TEX28 1
- TMEM126A 2
- TMEM67 1
- TRIM32 4
- TYR 2
- TYRP1 2
- VAX1 1
- WASF3 2
- WFS1 1
- WT1 1
- ZNF513 3
- ZPR1 2
- EVR3 3
- FSD1L 1
- MDM1 1
Retinal disorders
Gene: ARHGEF18 Green List (high evidence)
ARHGEF18 (Rho/Rac guanine nucleotide exchange factor 18)
EnsemblGeneIds (GRCh38): ENSG00000104880
EnsemblGeneIds (GRCh37): ENSG00000104880
OMIM: 616432, Gene2Phenotype
ARHGEF18 is in 1 panel
EnsemblGeneIds (GRCh38): ENSG00000104880
EnsemblGeneIds (GRCh37): ENSG00000104880
OMIM: 616432, Gene2Phenotype
ARHGEF18 is in 1 panel
2 reviews
Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)
Green List (high evidence)
Created: 30 Aug 2019, 2:12 p.m.
Last Modified: 30 Aug 2019, 2:12 p.m.
Panel version: 1.159
Last Modified: 30 Aug 2019, 2:12 p.m.
Panel version: 1.159
Ellen McDonagh (Genomics England Curator)
Comment on list classification: PMID: 28132693 - Reported in 3 individuals from 3 different families - parents verified as heterozygous in two of the families. 5 different variants reported. Previously, knock-out of Arhgef18 in the medaka fish has been shown to cause larval lethality which is preceded by retinal defects that resemble those seen in zebrafish Crumbs complex knock-outs. New disease-gene entry in OMIM. Promoted to green due to this evidence.Created: 15 Aug 2017, 2:09 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Retinitis pigmentosa 78 617433
Publications
Created: 15 Aug 2017, 1:55 p.m.
Panel version: 1.44
Panel version: 1.44
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Other
- Phenotypes
-
- Retinitis pigmentosa 78 617433
- OMIM
- 616432
- Clinvar variants
- Variants in ARHGEF18
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
3 Apr 2019, Gel status: 3
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source NHS GMS was added to ARHGEF18. Rating Changed from Green List (high evidence) to Green List (high evidence)
15 Aug 2017, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
15 Aug 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)ARHGEF18 was created by ellenmcdonagh
15 Aug 2017, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)ARHGEF18 was added to Posterior segment abnormalitiespanel. Sources: Other