- Panels
- Structural eye disease
- PRPF8
Genes in panel
- ABCB6 2
- ACTB 2
- ACTG1 2
- ADAMTS10 2
- ADAMTS17 2
- ADAMTS18 2
- ADAMTSL4 2
- ALDH1A3 2
- ALX1 5
- ANK3 3
- ARHGAP35 3
- ASPH 4
- ATOH7 2
- B3GALNT2 2
- B3GLCT 2
- BCOR 2
- BEST1 3
- BMP4 2
- BMPR1B 3
- C12orf57 2
- CAPN15 4
- CBS 2
- CC2D2A 2
- CDON 2
- CENPF 2
- CEP290 2
- CHD7 2
- CHRDL1 2
- CLDN19 2
- COL18A1 2
- COL4A1 2
- CPAMD8 2
- CREBBP 2
- CRIM1 3
- CRYAA 4
- CRYBB1 2
- CRYBB2 5
- CRYGC 2
- CYP1B1 2
- DDX58 4
- DOCK6 2
- DYRK1A 2
- EPHA2 5
- ESCO2 2
- FAT1 2
- FBN1 2
- FKTN 2
- FOXC1 3
- FOXD3 3
- FOXE3 5
- FRAS1 2
- FREM1 2
- FREM2 2
- FZD5 3
- GDF6 2
- GJA1 4
- GJA8 2
- GRIP1 2
- HCCS 2
- HHAT 3
- HMX1 2
- IFIH1 2
- INPP5E 2
- ISPD 3
- KDM6A 5
- KIAA0586 4
- KIAA1109 3
- KIF11 5
- KMT2D 2
- LAMB2 2
- LMX1B 2
- LRP2 2
- LRP5 3
- LTBP2 2
- MAB21L2 2
- MAF 2
- MAPRE2 2
- MFRP 2
- MIR204 5
- MITF 3
- MYOC 2
- MYRF 2
- NAA10 2
- NDP 2
- NHS 2
- NUP188 5
- OCRL 2
- OFD1 5
- OTX2 3
- PACS1 3
- PAX2 3
- PAX6 2
- PIGL 2
- PITX2 2
- PITX3 2
- POMGNT1 2
- POMT1 3
- POMT2 3
- PORCN 2
- PRR12 2
- PRSS56 2
- PTCH1 2
- PUF60 2
- PXDN 2
- RAB18 2
- RAB3GAP1 2
- RAB3GAP2 2
- RARB 2
- RAX 2
- RBP4 2
- RERE 2
- RHOA 5
- RIPK4 2
- RPGRIP1L 2
- SALL1 2
- SALL4 2
- SBF2 2
- SH3PXD2B 2
- SHH 2
- SIX6 3
- SLC25A24 5
- SLC38A8 3
- SLC4A4 2
- SMCHD1 2
- SMG8 3
- SMO 3
- SMOC1 2
- SOX2 2
- SRD5A3 2
- STRA6 2
- TBC1D20 2
- TEK 2
- TENM3 3
- TFAP2A 2
- TMEM216 2
- TMEM237 2
- TMEM5 4
- TMEM67 2
- TMEM98 2
- TUBGCP4 2
- VSX2 3
- WDR37 3
- WLS 3
- YAP1 2
- ZEB2 2
- AIPL1 2
- ARR3 2
- BMP7 2
- BMPR1A 2
- BRPF1 2
- C16orf62 1
- CDH2 2
- CDH4 2
- CDK5RAP2 2
- CNNM4 2
- COL2A1 2
- COL6A3 1
- COX7B 3
- CRB1 2
- CRYBA4 2
- CRYBB3 2
- CRYGD 2
- DAG1 2
- EFEMP1 4
- EFTUD2 2
- ERCC1 2
- FANCL 2
- FKRP 3
- FZD4 2
- GDF3 5
- GLI2 3
- HMGB3 2
- HNRNPC 1
- IGBP1 2
- IPO13 2
- KERA 2
- MYH10 2
- NR6A1 2
- NTN1 3
- OLFM2 3
- PDE6D 2
- PDGFRA 2
- PLK4 1
- POMGNT2 2
- PQBP1 4
- SALL2 2
- SCLT1 3
- SIX3 2
- SLC16A12 2
- SLC2A1 2
- SMAD4 2
- SMG9 2
- TBC1D32 3
- TCOF1 2
- TMX3 2
- TOGARAM1 2
- TOMM7 1
- TSC2 3
- TUBB 2
- VAX1 2
- VSX1 2
- WNT2B 1
- ZIC2 2
- ABCA4 2
- ABHD12 2
- ADAM9 2
- ADGRV1 2
- AGBL1 2
- AGK 2
- AGPS 2
- AHI1 2
- ALDH18A1 2
- ALMS1 2
- ALX3 2
- ARL13B 2
- ARL6 2
- ASB10 2
- ATP13A2 2
- BBS1 2
- BBS10 2
- BBS12 2
- BBS2 2
- BBS4 2
- BBS5 2
- BBS7 2
- BBS9 2
- BFSP1 2
- BFSP2 2
- C1QTNF5 2
- C2orf71 3
- C5orf42 4
- C8orf37 3
- CA4 2
- CABP4 2
- CACNA1F 2
- CACNA2D4 2
- CDH23 2
- CDH3 2
- CDHR1 2
- CEP41 2
- CERKL 2
- CHM 2
- CHMP4B 2
- CHST6 2
- CIB2 2
- CLN3 2
- CLN5 2
- CLN6 2
- CLN8 2
- CLRN1 2
- CNGA1 2
- CNGA3 2
- CNGB1 2
- CNGB3 2
- COL11A1 2
- COL11A2 2
- COL8A2 2
- COL9A1 2
- COL9A2 2
- CRX 2
- CRYAB 2
- CRYBA1 2
- CRYGB 2
- CRYGS 2
- CSPP1 2
- CTDP1 2
- CTSD 2
- CYP27A1 2
- CYP4V2 2
- CYP51A1 2
- DCN 2
- DDB1 2
- DDB2 2
- DHCR7 2
- DHDDS 2
- DHX38 2
- DPYD 2
- ELOVL4 2
- ELP4 2
- EP300 2
- EPG5 2
- ERCC2 2
- ERCC3 2
- ERCC4 2
- ERCC5 2
- ERCC6 2
- ERCC8 2
- EYA1 2
- EYS 2
- FADD 2
- FAM111A 2
- FAM126A 3
- FAM161A 2
- FANCA 2
- FANCD2 2
- FANCE 2
- FANCI 2
- FLVCR1 2
- FNBP4 2
- FOXL2 2
- FSCN2 2
- FTL 2
- FYCO1 2
- GALK1 2
- GALT 2
- GCNT2 2
- GFER 2
- GJA3 2
- GNAT1 2
- GNAT2 2
- GNPTG 2
- GPR143 2
- GPR179 2
- GRM6 2
- GRN 2
- GSN 2
- GTF2H5 2
- GUCA1A 2
- GUCA1B 2
- GUCY2D 2
- HARS 3
- HDAC6 2
- HSF4 2
- IDH3B 2
- IKBKG 2
- IMPDH1 2
- IMPG2 2
- INVS 2
- IQCB1 2
- ITPA 2
- ITPR1 2
- JAM3 2
- KAT6B 2
- KCNJ13 2
- KCNV2 2
- KCTD7 2
- KIAA0556 2
- KIF17 2
- KIF26B 1
- KIF7 4
- KLHL7 2
- KRT12 2
- KRT3 2
- LCA5 2
- LCAT 2
- LIM2 2
- LRAT 2
- LRIT3 2
- LRMDA 2
- LZTFL1 2
- MAK 2
- MAN2B1 2
- MERTK 2
- MFN2 2
- MFSD8 2
- MIP 2
- MIR184 2
- MKKS 2
- MKS1 2
- MPLKIP 2
- MTTP 2
- MYH9 2
- MYO7A 2
- NDUFB11 2
- NF2 3
- NOTCH2 2
- NPHP1 2
- NPHP3 2
- NPHP4 2
- NR2E3 2
- NR2F1 2
- NRL 2
- NTF4 2
- NYX 2
- OAT 2
- OCA2 2
- OPA1 2
- OPA3 2
- OPTN 2
- P3H2 2
- PAX3 2
- PCDH15 2
- PDE6A 2
- PDE6B 2
- PDE6C 2
- PDE6G 2
- PDE6H 2
- PDZD7 2
- PEX10 2
- PEX11B 2
- PEX12 2
- PEX13 2
- PEX14 2
- PEX16 2
- PEX19 2
- PEX2 2
- PEX26 2
- PEX3 2
- PEX5 2
- PEX6 2
- PEX7 2
- PHYH 2
- PIKFYVE 2
- PITPNM3 2
- PLA2G5 2
- POLH 2
- POLR1C 2
- POLR1D 2
- PPT1 2
- PRCD 2
- PRDM5 2
- PROM1 2
- PRPF3 2
- PRPF31 2
- PRPF6 2
- PRPF8 2
- PRPH2 2
- RARA 2
- RAX2 2
- RBP3 2
- RD3 2
- RDH12 2
- RDH5 3
- RGR 2
- RGS9 2
- RGS9BP 2
- RHO 2
- RIMS1 2
- RLBP1 2
- ROM1 2
- RP1 2
- RP2 2
- RP9 2
- RPE65 2
- RPGR 2
- RPGRIP1 2
- RS1 2
- SAG 2
- SC5D 2
- SDCCAG8 2
- SEC23A 2
- SEMA3E 2
- SEMA4A 2
- SIL1 2
- SLC24A1 2
- SLC24A5 2
- SLC33A1 2
- SLC45A2 2
- SLC4A11 2
- SNRNP200 2
- SNX3 2
- SPATA13 1
- SPATA7 2
- SPINT2 2
- TACSTD2 2
- TBC1D23 2
- TBX22 2
- TCTN1 2
- TCTN2 2
- TCTN3 2
- TDRD7 2
- TGFBI 2
- TIMM8A 2
- TIMP3 2
- TMEM126A 2
- TMEM138 2
- TMEM231 2
- TOPORS 2
- TP53BP2 2
- TPP1 2
- TRIM32 2
- TRIM44 2
- TRPM1 2
- TSPAN12 2
- TTC21B 2
- TTC8 2
- TULP1 2
- TYR 2
- TYRP1 2
- UBIAD1 2
- UNC119 2
- USH1C 2
- USH1G 2
- USH2A 2
- VCAN 2
- VIM 2
- WDPCP 2
- WDR36 2
- WFS1 2
- WHRN 2
- WNT3 2
- WRAP73 3
- WRN 2
- WT1 2
- XPA 2
- XPC 2
- ZEB1 2
- ZNF408 2
- ZNF423 2
- ZNF513 2
- B3GALT1 1
STRs in panel
Prev
Next
Structural eye disease
Gene: PRPF8 Red List (low evidence)
PRPF8 (pre-mRNA processing factor 8)
EnsemblGeneIds (GRCh38): ENSG00000174231
EnsemblGeneIds (GRCh37): ENSG00000174231
OMIM: 607300, Gene2Phenotype
PRPF8 is in 6 panels
EnsemblGeneIds (GRCh38): ENSG00000174231
EnsemblGeneIds (GRCh37): ENSG00000174231
OMIM: 607300, Gene2Phenotype
PRPF8 is in 6 panels
2 reviews
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)
Red List (low evidence)
retinal gene, can't find any evidence that it is associated with structural eye diseaseCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Retinitis pigmentosa 13; 600059
Created: 19 Jun 2019, 3:32 p.m.
Panel version: 0.76
Panel version: 0.76
Ivone Leong (Genomics England Curator)
Red List (low evidence)
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). retinal gene, can't find any evidence that it is associated with structural eye diseaseCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Retinitis pigmentosa 13, 600059
Created: 17 Apr 2019, 3:30 p.m.
Panel version: 0.48
Panel version: 0.48
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- NHS GMS
- Expert Review Red
- Phenotypes
-
- Retinitis pigmentosa 13, 600059
- Eye Disorders
- OMIM
- 607300
- Clinvar variants
- Variants in PRPF8
- Penetrance
- None
- Panels with this gene
History Filter Activity
17 Apr 2019, Gel status: 1
Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)Source NHS GMS was added to PRPF8. Mode of inheritance for gene PRPF8 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Retinitis pigmentosa 13, 600059 for gene: PRPF8
3 Jan 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: PRPF8 was added gene: PRPF8 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: PRPF8 was set to Phenotypes for gene: PRPF8 were set to Eye Disorders