- Panels
- Retinal disorders
- CAPN5
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
Retinal disorders
Gene: CAPN5 Green List (high evidence)
CAPN5 (calpain 5)
EnsemblGeneIds (GRCh38): ENSG00000149260
EnsemblGeneIds (GRCh37): ENSG00000149260
OMIM: 602537, Gene2Phenotype
CAPN5 is in 1 panel
EnsemblGeneIds (GRCh38): ENSG00000149260
EnsemblGeneIds (GRCh37): ENSG00000149260
OMIM: 602537, Gene2Phenotype
CAPN5 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)
This gene is on the Manchester Genetic Retinal Degeneration Conditions panel (covers known genes for isolated progessive retinal degeneration, Leber congenital amaurosis, macular dystrophy, achromatopsia, congenital stationary night blindness as well as the two most common causes of syndromic blindess Usher and Bardet-Biedl syndromes and additional syndromes including Joubert, Senior-Loken, and Cohen syndrome.Created: 2 Jun 2016, 8:04 a.m.
Created: 2 Jun 2016, 8:04 a.m.
Panel version: 0.201
Panel version: 0.201
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Genetic Retinal Degeneration Conditions
- OMIM
- 602537
- Clinvar variants
- Variants in CAPN5
- Penetrance
- Complete
- 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 CAPN5. Rating Changed from Green List (high evidence) to Green List (high evidence)
21 Mar 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
21 Mar 2016, Gel status: 4
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for CAPN5 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
9 Mar 2016, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)CAPN5 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green
9 Mar 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)CAPN5 was created by ellenmcdonagh