- Panels
- Retinal disorders
- MAPKAPK3
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
- AP5M1 3
- AP5Z1 3
- 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
- C19orf44 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
- CYP2U1 3
- CYP4V2 3
- DCT 3
- DHDDS 2
- DHX38 5
- DRAM2 3
- DYNC2H1 3
- DYRK1A 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
- IDH3G 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 7
- 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
- POC5 4
- 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 6
- RNU4-2 2
- RNU4ATAC 3
- RNU6-1 2
- RNU6-2 2
- RNU6-8 2
- RNU6-9 2
- ROM1 6
- RP1 5
- RP1L1 6
- RP2 3
- RP9 3
- RPE65 4
- RPGR 3
- RPGRIP1 3
- RPGRIP1L 2
- RS1 2
- SAG 5
- SAMD7 4
- SCAPER 2
- SDCCAG8 2
- SGSH 2
- SLC24A1 2
- SLC37A3 6
- SLC38A8 6
- SLC6A6 2
- SNRNP200 3
- SPATA7 3
- SPG11 4
- SRD5A3 2
- SSBP1 4
- STN1 2
- STX3 1
- SUMF1 3
- TBC1D32 2
- THRB 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
- USH1C 3
- USH1G 2
- USH2A 3
- USP45 3
- VCAN 3
- VPS13B 3
- VSX2 4
- WDPCP 4
- WDR19 2
- WHRN 4
- ZFYVE26 2
- ZNF408 2
- ZNF423 2
- ADIPOR1 1
- AP5B1 2
- ASRGL1 1
- C12orf65 2
- CCT2 1
- CEP19 1
- CLCC1 1
- CLUAP1 1
- COQ5 1
- CYP2R1 2
- DMD 1
- EGFLAM 2
- ELOVL1 1
- ESPN 1
- EXOSC2 1
- FRMD7 5
- FSD1L 2
- GDF6 3
- GPATCH11 1
- IFT81 2
- KIF3B 1
- LIG3 2
- LRRC32 2
- MAPKAPK3 1
- MDM1 2
- MORC2 2
- MT-TH 1
- MT-TP 1
- MT-TS2 1
- OPN1SW 1
- PAK2 1
- PAX6 6
- PDE6H 4
- PGK1 1
- POMGNT2 2
- RDH11 2
- RTN4IP1 1
- SAMD11 1
- SEMA4A 3
- SLC25A46 1
- SPG7 2
- SPP2 1
- SPTLC1 2
- TEAD1 4
- TTPA 1
- UNC119 8
- 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
- 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
- INTS11 1
Retinal disorders
Gene: MAPKAPK3 Amber List (moderate evidence)
MAPKAPK3 (mitogen-activated protein kinase-activated protein kinase 3)
EnsemblGeneIds (GRCh38): ENSG00000114738
EnsemblGeneIds (GRCh37): ENSG00000114738
OMIM: 602130, Gene2Phenotype
MAPKAPK3 is in 1 panel
EnsemblGeneIds (GRCh38): ENSG00000114738
EnsemblGeneIds (GRCh37): ENSG00000114738
OMIM: 602130, Gene2Phenotype
MAPKAPK3 is in 1 panel
1 review
Ivone Leong (Genomics England Curator)
I don't know
Submitted on behalf of the GMS Eye specialist group. These genes are also from RetNet. There is currently not enough evidence to rate these genes Green, therefore they have been given an Amber rating.Created: 27 Dec 2019, 9:10 a.m. | Last Modified: 27 Dec 2019, 9:10 a.m.
Panel Version: 2.5
Created: 27 Dec 2019, 9:10 a.m.
Last Modified: 27 Dec 2019, 9:10 a.m.
Panel version: 2.5
Last Modified: 27 Dec 2019, 9:10 a.m.
Panel version: 2.5
Details
- Sources
-
- NHS GMS
- RetNet
- Expert Review Amber
- OMIM
- 602130
- Clinvar variants
- Variants in MAPKAPK3
- Penetrance
- None
- Panels with this gene
History Filter Activity
27 Dec 2019, Gel status: 2
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: MAPKAPK3 was added gene: MAPKAPK3 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS Mode of inheritance for gene: MAPKAPK3 was set to