- Panels
- Prepair 500+
- PRF1
Genes in panel
- AAAS 0
- AARS2 0
- ABCA12 0
- ABCA3 0
- ABCB11 0
- ABCB4 0
- ABCC8 0
- ABCD1 0
- ACAD9 0
- ACADM 0
- ACADVL 0
- ACAT1 0
- ACOX1 0
- ADA 0
- ADAMTS2 0
- ADAR 0
- ADGRG1 0
- ADGRV1 0
- ADSL 0
- AGA 0
- AGK 0
- AGL 0
- AGPS 0
- AGXT 0
- AHI1 0
- AIFM1 0
- AIPL1 0
- AK2 0
- ALDH18A1 0
- ALDH3A2 0
- ALDH5A1 0
- ALDH7A1 0
- ALDOB 0
- ALG1 0
- ALG3 0
- ALG6 0
- ALMS1 0
- ALPL 0
- AMPD2 0
- AMT 0
- AP1S2 0
- AQP2 0
- ARG1 0
- ARL13B 0
- ARL6 0
- ARSA 0
- ARSB 0
- ARX 0
- ASL 0
- ASNS 0
- ASPA 0
- ASPM 0
- ASS1 0
- ATM 0
- ATP6V1B1 0
- ATP7A 0
- ATP7B 0
- ATP8B1 0
- ATR 0
- ATRX 0
- AUH 0
- B3GLCT 0
- BBS1 0
- BBS10 0
- BBS12 0
- BBS2 0
- BBS4 0
- BBS5 0
- BBS7 0
- BBS9 0
- BCKDHA 0
- BCKDHB 0
- BCS1L 0
- BLM 0
- BRAT1 0
- BRWD3 0
- BSND 0
- BTK 0
- C5orf42 0
- CANT1 0
- CAPN3 0
- CASK 0
- CASQ2 0
- CC2D1A 0
- CC2D2A 0
- CCBE1 0
- CCDC103 0
- CCDC39 0
- CCDC88C 0
- CD3D 0
- CD40 0
- CD40LG 0
- CDH23 0
- CENPJ 0
- CEP152 0
- CEP290 0
- CEP41 0
- CFTR 0
- CHAT 0
- CHRNE 0
- CHRNG 0
- CIITA 0
- CKAP2L 0
- CLCN5 0
- CLCN7 0
- CLN3 0
- CLN5 0
- CLN6 0
- CLN8 0
- CLP1 0
- CLPB 0
- CLRN1 0
- CNGB3 0
- COL11A2 0
- COL17A1 0
- COL18A1 0
- COL27A1 0
- COL4A3 0
- COL4A4 0
- COL4A5 0
- COL6A1 0
- COL7A1 0
- COLEC11 0
- COLQ 0
- COX15 0
- CPS1 0
- CPT1A 0
- CPT2 0
- CRB1 0
- CRTAP 0
- CSPP1 0
- CTNS 0
- CTSA 0
- CTSC 0
- CTSD 0
- CTSK 0
- CUL4B 0
- CYBA 0
- CYBB 0
- CYP11A1 0
- CYP11B2 0
- CYP17A1 0
- CYP1B1 0
- CYP27A1 0
- CYP7B1 0
- D2HGDH 0
- DBT 0
- DCAF17 0
- DCLRE1C 0
- DCX 0
- DDC 0
- DDX11 0
- DGAT1 0
- DGUOK 0
- DHCR24 0
- DHCR7 0
- DHDDS 0
- DIS3L2 0
- DKC1 0
- DLD 0
- DLG3 0
- DLL3 0
- DMD 0
- DNAH11 0
- DNAH5 0
- DNAI1 0
- DNAI2 0
- DNMT3B 0
- DOCK6 0
- DOK7 0
- DYM 0
- DYNC2H1 0
- DYSF 0
- ECHS1 0
- EDA 0
- EIF2AK3 0
- EIF2B1 0
- EIF2B2 0
- EIF2B3 0
- EIF2B4 0
- EIF2B5 0
- ELP1 0
- EMD 0
- ENPP1 0
- EPG5 0
- ERCC2 0
- ERCC4 0
- ERCC5 0
- ERCC6 0
- ERCC8 0
- ESCO2 0
- ETFA 0
- ETFB 0
- ETFDH 0
- ETHE1 0
- EVC 0
- EVC2 0
- EXOSC3 0
- EXOSC8 0
- F2 0
- FAH 0
- FAM126A 0
- FANCA 0
- FANCB 0
- FANCC 0
- FANCD2 0
- FANCE 0
- FANCF 0
- FANCG 0
- FANCI 0
- FANCL 0
- FAT4 0
- FBP1 0
- FBXO7 0
- FH 0
- FHL1 0
- FKBP10 0
- FKRP 0
- FKTN 0
- FLNA 0
- FMR1 0
- FOXN1 0
- FOXRED1 0
- FRAS1 0
- FREM2 0
- FTSJ1 0
- FUCA1 0
- G6PC 0
- G6PC3 0
- GAA 0
- GALC 0
- GALNS 0
- GALT 0
- GAMT 0
- GATM 0
- GBE1 0
- GCDH 0
- GCH1 0
- GDAP1 0
- GDF1 0
- GDF5 0
- GFM1 0
- GHR 0
- GJB1 0
- GLA 0
- GLB1 0
- GLDC 0
- GLE1 0
- GNB5 0
- GNE 0
- GNPAT 0
- GNPTAB 0
- GNPTG 0
- GNS 0
- GORAB 0
- GPC3 0
- GPR143 0
- GPSM2 0
- GSS 0
- GUCY2D 0
- GUSB 0
- HADH 0
- HADHA 0
- HADHB 0
- HAMP 0
- HAX1 0
- HBB 0
- HCFC1 0
- HEXA 0
- HEXB 0
- HFE2 0
- HGSNAT 0
- HIBCH 0
- HLCS 0
- HMGCL 0
- HMGCS2 0
- HPD 0
- HPRT1 0
- HPS1 0
- HPS3 0
- HPS4 0
- HPS5 0
- HPS6 0
- HSD17B10 0
- HSD17B4 0
- HSD3B2 0
- HUWE1 0
- HYLS1 0
- IDS 0
- IDUA 0
- IGHMBP2 0
- IKBKB 0
- IL1RAPL1 0
- IL2RG 0
- IL7R 0
- INPP5E 0
- INVS 0
- IQSEC2 0
- ITGA6 0
- ITGB4 0
- ITPR1 0
- IVD 0
- JAK3 0
- KATNB1 0
- KCNJ1 0
- KCNJ11 0
- KCNQ1 0
- KDM5C 0
- KIF1A 0
- KIF7 0
- KRT14 0
- L1CAM 0
- L2HGDH 0
- LAMA2 0
- LAMA3 0
- LAMB1 0
- LAMB2 0
- LAMB3 0
- LAMC2 0
- LARGE1 0
- LARS 0
- LCA5 0
- LDLR 0
- LDLRAP1 0
- LHX3 0
- LIFR 0
- LIG4 1
- LIPA 0
- LMBRD1 0
- LMNA 0
- LPL 0
- LRAT 0
- LRP2 0
- LRPPRC 0
- LYST 0
- LZTFL1 0
- MAN2B1 0
- MANBA 0
- MASP1 0
- MCOLN1 0
- MCPH1 0
- MECP2 0
- MED12 0
- MED17 0
- MESP2 0
- METTL23 0
- MFN2 0
- MFSD8 0
- MID1 0
- MKKS 0
- MKS1 0
- MLC1 0
- MLYCD 0
- MMAA 0
- MMAB 0
- MMACHC 0
- MMADHC 0
- MOCS1 0
- MOCS2 0
- MPI 0
- MPL 0
- MPV17 0
- MRE11 0
- MTFMT 0
- MTHFR 0
- MTM1 0
- MTMR2 0
- MTR 0
- MTRR 0
- MTTP 0
- MUSK 0
- MUT 0
- MVK 0
- MYO5B 0
- MYO7A 0
- NAGA 0
- NAGLU 0
- NAGS 0
- NALCN 0
- NARS2 0
- NBN 0
- NCF2 0
- NDE1 0
- NDP 0
- NDRG1 0
- NDUFAF2 0
- NDUFAF5 0
- NDUFS4 0
- NDUFS6 0
- NDUFS7 0
- NDUFV1 0
- NEB 0
- NEU1 0
- NGLY1 0
- NNT 0
- NPC1 0
- NPC2 0
- NPHP1 0
- NPHP3 0
- NPHS1 0
- NPHS2 0
- NR0B1 0
- NTRK1 0
- OCRL 0
- OFD1 0
- OPA1 0
- OPA3 0
- OPHN1 0
- OSGEP 0
- OSTM1 0
- OTC 0
- P3H1 0
- PAH 0
- PAK3 0
- PANK2 0
- PC 0
- PCCA 0
- PCCB 0
- PCDH15 0
- PCDH19 0
- PCNT 0
- PDHA1 0
- PDHB 0
- PEPD 0
- PET100 0
- PEX1 0
- PEX10 0
- PEX12 0
- PEX13 0
- PEX16 0
- PEX2 0
- PEX26 0
- PEX5 0
- PEX6 0
- PEX7 0
- PFKM 0
- PGAP2 0
- PGK1 0
- PGM1 0
- PGM3 0
- PHF8 0
- PHGDH 0
- PHYH 0
- PIBF1 0
- PIGG 0
- PIGN 0
- PIGT 0
- PKHD1 0
- PLA2G6 0
- PLOD1 0
- PLP1 0
- PLPBP 0
- PMM2 0
- PNKP 0
- PNPO 0
- POLG 0
- POLR1C 0
- POLR3B 0
- POMGNT1 0
- POMT1 0
- POMT2 0
- POR 0
- POU1F1 0
- PPT1 0
- PQBP1 0
- PRDM5 0
- PRF1 0
- PROP1 0
- PRPS1 0
- PSAP 0
- PTS 0
- PUS1 0
- QDPR 0
- RAB18 0
- RAB23 0
- RAB3GAP1 0
- RAB3GAP2 0
- RAG1 0
- RAG2 0
- RAPSN 0
- RARS2 0
- RAX 0
- RBBP8 0
- RDH12 0
- RMND1 0
- RMRP 0
- RNASEH2A 0
- RNASEH2B 0
- RNASEH2C 0
- RP2 0
- RPE65 0
- RPGRIP1L 0
- RPS6KA3 0
- RTEL1 0
- RYR1 0
- SACS 0
- SAMHD1 0
- SC5D 0
- SCO2 0
- SDCCAG8 0
- SEC23B 0
- SEPSECS 0
- SERAC1 0
- SERPINH1 0
- SGCA 0
- SGCB 0
- SGCD 0
- SGCG 0
- SGSH 0
- SH3TC2 0
- SKIV2L 0
- SLC12A1 0
- SLC12A6 0
- SLC16A2 0
- SLC17A5 0
- SLC19A2 0
- SLC19A3 0
- SLC1A4 0
- SLC22A5 0
- SLC25A1 0
- SLC25A13 0
- SLC25A15 0
- SLC26A2 0
- SLC26A3 0
- SLC35A3 0
- SLC37A4 0
- SLC38A8 0
- SLC39A4 0
- SLC45A2 0
- SLC46A1 0
- SLC52A2 0
- SLC52A3 0
- SLC6A5 0
- SLC6A8 0
- SLC7A7 0
- SMARCAL1 0
- SMN1 0
- SMPD1 0
- SNAP29 0
- SPATA5 0
- SPG11 0
- SPINK5 0
- SPR 0
- ST3GAL5 0
- STAR 0
- STX11 0
- STXBP2 0
- SUMF1 0
- SUOX 0
- SURF1 0
- SYN1 0
- TANGO2 0
- TAT 0
- TAZ 0
- TBC1D23 0
- TBC1D24 0
- TBCD 0
- TBCE 0
- TCIRG1 0
- TCN2 0
- TCTN2 0
- TCTN3 0
- TECPR2 0
- TELO2 0
- TF 0
- TGM1 0
- TH 0
- THOC2 0
- TK2 0
- TMEM138 0
- TMEM216 0
- TMEM231 0
- TMEM237 0
- TMEM67 0
- TMTC3 0
- TOE1 0
- TPP1 0
- TRDN 0
- TREX1 0
- TRIM32 0
- TRIM37 0
- TRMU 0
- TRPM6 0
- TSEN2 0
- TSEN54 0
- TSFM 0
- TSHB 0
- TTC37 0
- TTC7A 0
- TTC8 0
- TTPA 0
- TULP1 0
- TWNK 0
- TYMP 0
- TYR 0
- TYRP1 0
- UBA5 0
- UBE2T 0
- UBR1 0
- UGT1A1 0
- UNC13D 0
- UPF3B 0
- USH1C 0
- USH1G 0
- USH2A 0
- USP9X 0
- VLDLR 0
- VPS11 0
- VPS13B 0
- VPS45 0
- VPS53 0
- VRK1 0
- VSX2 0
- WAS 0
- WDR34 0
- WDR62 0
- WDR81 0
- WHRN 0
- WISP3 0
- WRN 0
- WWOX 0
- XIAP 0
- XPA 0
- XPC 0
- YARS2 0
- ZBTB24 0
- ZDHHC9 0
- ZFYVE26 0
- ZNF711 0
STRs in panel
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Prepair 500+
Gene: PRF1 Green List (high evidence)
PRF1 (perforin 1)
EnsemblGeneIds (GRCh38): ENSG00000180644
EnsemblGeneIds (GRCh37): ENSG00000180644
OMIM: 170280, Gene2Phenotype
PRF1 is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000180644
EnsemblGeneIds (GRCh37): ENSG00000180644
OMIM: 170280, Gene2Phenotype
PRF1 is in 12 panels
0 reviews
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Mackenzie's Mission
- Phenotypes
-
- Hemophagocytic lymphohistiocytosis, familial, 2, 603553 (3)
- OMIM
- 170280
- Clinvar variants
- Variants in PRF1
- Penetrance
- None
- Panels with this gene
-
- Disorders of immune dysregulation
- Mackenzie's Mission_Reproductive Carrier Screening
- Leukodystrophy - paediatric
- Fetal anomalies
- Additional findings_Paediatric
- Prepair 1000+
- Mendeliome
- BabyScreen+ newborn screening
- Vasculitis
- Hydrops fetalis
- Prepair 500+
- Intellectual disability syndromic and non-syndromic
History Filter Activity
3 Nov 2023, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Seb Lunke (Victorian Clinical Genetics Services)gene: PRF1 was added gene: PRF1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: PRF1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PRF1 were set to Hemophagocytic lymphohistiocytosis, familial, 2, 603553 (3)