- Panels
- Molecular autopsy
- FKRP
Genes in panel
- AARS2 0
- AASS 0
- ABAT 0
- ABCA1 0
- ABCB11 0
- ABCB4 0
- ABCB7 0
- ABCC9 2
- ABCD1 0
- ABCD4 0
- ABHD5 0
- ACAD8 0
- ACAD9 0
- ACADM 0
- ACADS 0
- ACADSB 0
- ACADVL 0
- ACAT1 0
- ACO2 0
- ACOX1 0
- ACSF3 0
- ACTC1 2
- ACTN2 2
- ADAR 0
- AFG3L2 0
- AGA 0
- AGK 0
- AGL 0
- AGPS 0
- AGXT 0
- AIFM1 0
- AKR1D1 0
- ALAD 0
- ALDH18A1 0
- ALDH4A1 0
- ALDH5A1 0
- ALDH6A1 0
- ALDH7A1 0
- ALDOA 0
- ALDOB 0
- ALG1 0
- ALG11 0
- ALG12 0
- ALG3 0
- ALG6 0
- ALG8 0
- ALG9 0
- AMACR 0
- AMN 0
- AMT 0
- ANK2 2
- ANO10 0
- APOA1 0
- APOA5 0
- APOC2 0
- APOE 0
- APOPT1 1
- APRT 0
- APTX 0
- ARG1 0
- ARSA 0
- ARSB 0
- ARSE 1
- ASL 0
- ASPA 0
- ASS1 0
- ATAD3A 0
- ATIC 0
- ATP13A2 0
- ATP6AP1 0
- ATP6V0A2 0
- ATP7A 0
- ATP7B 0
- ATP8B1 0
- ATPAF2 0
- AUH 0
- B3GALNT2 0
- B3GALT6 0
- B3GAT3 0
- B3GLCT 0
- B4GALT1 0
- B4GALT7 0
- B4GAT1 0
- BAAT 0
- BAG3 1
- BCKDHA 0
- BCKDHB 0
- BCKDK 0
- BCS1L 0
- BOLA3 0
- BRAF 1
- BTD 0
- C12orf65 1
- C19orf12 0
- C1QBP 0
- CA5A 0
- CACNA1C 2
- CACNB2 2
- CALM1 2
- CALM2 0
- CASQ2 2
- CAT 0
- CBL 1
- CBS 0
- CCDC115 1
- CHCHD10 0
- CHKB 0
- CHST14 0
- CHST3 0
- CHST6 0
- CHSY1 0
- CLN3 0
- CLN5 0
- CLN6 0
- CLN8 0
- CLPB 0
- CLPP 0
- CNNM2 0
- COG1 0
- COG4 0
- COG5 0
- COG6 0
- COG7 0
- COG8 0
- COL12A1 0
- COL6A1 0
- COL6A2 0
- COL6A3 0
- COQ2 0
- COQ4 0
- COQ6 0
- COQ8A 0
- COQ8B 0
- COQ9 0
- COX10 0
- COX14 0
- COX15 1
- COX20 0
- COX6A1 0
- COX6B1 0
- COX7B 0
- CP 0
- CPOX 0
- CPS1 0
- CPT1A 0
- CPT2 0
- CSRP3 2
- CTH 0
- CTNS 0
- CTSA 0
- CTSD 0
- CTSK 0
- CUBN 0
- CYC1 0
- CYP27A1 0
- D2HGDH 0
- DAG1 0
- DARS 1
- DARS2 0
- DBH 0
- DBT 0
- DDC 0
- DES 2
- DGUOK 0
- DHFR 0
- DHTKD1 0
- DLAT 0
- DLD 0
- DMD 1
- DNA2 0
- DNAJC12 0
- DNAJC19 1
- DNAJC5 0
- DNM1L 0
- DOLK 1
- DPAGT1 0
- DPM1 0
- DPM2 0
- DPYD 0
- DPYS 0
- DSC2 2
- DSG2 2
- DSP 2
- DYM 0
- EARS2 0
- EBP 0
- ECHS1 0
- ELAC2 0
- ENO3 0
- EPG5 0
- EPM2A 0
- ETFA 0
- ETFB 0
- ETFDH 0
- ETHE1 0
- EXT1 0
- EXT2 0
- EYA4 2
- FA2H 0
- FAH 0
- FAR1 0
- FARS2 0
- FASTKD2 0
- FBP1 0
- FBXL4 0
- FDXR 0
- FH 0
- FHL1 2
- FKRP 1
- FKTN 1
- FLAD1 0
- FMO3 0
- FOLR1 0
- FOXRED1 0
- FUCA1 0
- FUT8 0
- G6PC 1
- G6PC3 0
- GAA 1
- GABRG2 0
- GALC 0
- GALE 0
- GALK1 0
- GALNS 0
- GALNT3 0
- GALT 0
- GARS 1
- GATM 0
- GBA 0
- GBE1 0
- GCDH 0
- GCH1 0
- GCLC 0
- GDAP1 0
- GFER 0
- GFM1 0
- GFPT1 0
- GIF 1
- GLA 2
- GLB1 0
- GLDC 0
- GLRA1 0
- GLRX5 0
- GLUD1 0
- GLYCTK 0
- GM2A 0
- GMPPB 0
- GNE 0
- GNPAT 0
- GNPTAB 0
- GNPTG 0
- GNS 0
- GPD1 0
- GPD1L 2
- GPHN 0
- GRHPR 0
- GSS 0
- GTPBP3 0
- GUSB 0
- GYG1 0
- GYS1 0
- GYS2 0
- HAAO 0
- HADHA 1
- HADHB 0
- HAMP 0
- HCCS 0
- HCFC1 0
- HCN4 2
- HEXA 0
- HEXB 0
- HFE 1
- HFE2 1
- HGD 0
- HGSNAT 0
- HIBCH 0
- HLCS 0
- HMBS 0
- HMGCL 0
- HMGCS2 0
- HOGA1 0
- HPRT1 0
- HRAS 1
- HSD17B4 0
- HSD3B7 0
- HSPD1 0
- HTRA2 0
- HYAL1 0
- IARS2 0
- IBA57 0
- IDH2 0
- IDS 0
- IDUA 0
- IER3IP1 0
- INPP5K 0
- ISPD 1
- ITGA7 0
- ITPA 0
- IVD 0
- JUP 2
- KARS 2
- KCNE1 2
- KCNE2 2
- KCNE3 2
- KCNH2 2
- KCNJ2 2
- KCNJ5 2
- KCNQ1 2
- KRAS 1
- KYNU 0
- L2HGDH 0
- LAMA2 1
- LAMP2 2
- LARGE1 0
- LARS2 0
- LCAT 0
- LCT 0
- LDB3 1
- LDHA 0
- LIAS 0
- LIPA 0
- LIPT1 0
- LMBRD1 0
- LMNA 2
- LONP1 0
- LPIN1 0
- LPL 0
- LRPPRC 0
- LZTR1 0
- MAN1B1 0
- MAN2B1 0
- MAP2K1 1
- MAP2K2 1
- MARS2 0
- MAT1A 0
- MCCC1 0
- MCCC2 0
- MCEE 0
- MCOLN1 0
- MDH2 0
- MFF 0
- MFN2 0
- MFSD8 0
- MGAT2 0
- MGME1 0
- MICU1 0
- MLYCD 0
- MMAA 0
- MMAB 0
- MMACHC 0
- MMADHC 0
- MOGS 0
- MPDU1 0
- MPI 0
- MPV17 0
- MRPL44 1
- MRPS22 0
- MRPS34 0
- MSMO1 0
- MT-ATP6 0
- MT-ATP8 0
- MT-CO1 0
- MT-CO2 0
- MT-CO3 0
- MT-CYB 0
- MTHFR 0
- MT-ND1 0
- MT-ND2 0
- MT-ND3 0
- MT-ND4 0
- MT-ND4L 0
- MT-ND5 0
- MT-ND6 0
- MTO1 0
- MTR 0
- MT-RNR1 0
- MTRR 0
- MT-TA 0
- MT-TC 0
- MT-TD 0
- MT-TE 0
- MT-TF 0
- MT-TG 0
- MT-TH 0
- MT-TI 0
- MT-TK 0
- MT-TL1 0
- MT-TL2 0
- MT-TM 0
- MT-TN 0
- MTTP 0
- MT-TP 0
- MT-TQ 0
- MT-TR 0
- MT-TS1 0
- MT-TS2 0
- MT-TV 0
- MT-TW 0
- MT-TY 0
- MUT 1
- MYBPC3 2
- MYH6 2
- MYH7 2
- MYL2 2
- MYL3 2
- MYMK 0
- NAGA 0
- NAGLU 0
- NAGS 0
- NARS2 0
- NDUFA1 1
- NDUFA10 0
- NDUFA11 0
- NDUFA2 0
- NDUFAF1 0
- NDUFAF2 0
- NDUFAF3 0
- NDUFAF4 0
- NDUFAF5 0
- NDUFAF6 0
- NDUFB11 0
- NDUFB3 0
- NDUFS1 0
- NDUFS2 0
- NDUFS3 0
- NDUFS4 0
- NDUFS6 0
- NDUFS7 0
- NDUFS8 0
- NDUFV1 0
- NDUFV2 0
- NEU1 0
- NEXN 2
- NF1 0
- NFU1 0
- NGLY1 0
- NHLRC1 0
- NPC1 0
- NPC2 0
- NRAS 1
- NSDHL 0
- NT5C3A 0
- NUBPL 0
- OAT 0
- OPA1 0
- OPA3 0
- OTC 0
- OXCT1 0
- PAH 0
- PC 0
- PCBD1 0
- PCCA 0
- PCCB 0
- PDHA1 0
- PDHB 0
- PDHX 0
- PDP1 0
- PDSS1 0
- PDSS2 0
- PET100 0
- PEX1 0
- PEX10 0
- PEX11B 0
- PEX12 0
- PEX13 0
- PEX14 0
- PEX16 0
- PEX19 0
- PEX2 0
- PEX26 0
- PEX3 0
- PEX5 0
- PEX6 0
- PEX7 0
- PFKM 0
- PGAP2 0
- PGAP3 0
- PGK1 0
- PGM1 0
- PGM3 0
- PHKA1 0
- PHKA2 0
- PHKB 0
- PHKG2 0
- PHOX2B 0
- PHYH 0
- PIGA 0
- PIGL 0
- PIGN 0
- PIGO 0
- PIGT 0
- PIGV 0
- PKP2 2
- PLA2G6 0
- PLN 2
- PMM2 0
- PMPCA 0
- PNPO 0
- PNPT1 0
- POLG 0
- POLG2 1
- POMGNT1 0
- POMGNT2 0
- POMK 0
- POMT1 0
- POMT2 0
- PPA2 1
- PPOX 0
- PPP1CB 0
- PPP1R13L 0
- PPT1 0
- PRKAG2 2
- PRODH 0
- PSAP 0
- PTPN11 1
- PUS1 0
- PYCR1 0
- PYGL 0
- PYGM 0
- QDPR 0
- RAB3GAP2 0
- RAF1 1
- RARS2 0
- RBCK1 0
- RBM20 2
- RFT1 0
- RIT1 0
- RMND1 0
- RNASEH1 0
- ROBO3 0
- RPIA 0
- RPL10 0
- RRM2B 0
- RYR1 0
- RYR2 2
- SACS 0
- SAMHD1 0
- SAR1B 0
- SARS2 0
- SCN10A 1
- SCN1B 2
- SCN3B 2
- SCN5A 2
- SCO1 0
- SCO2 0
- SCP2 0
- SDHA 1
- SDHAF1 0
- SDHB 0
- SDHD 0
- SEC23B 0
- SELENON 0
- SERAC1 0
- SGCD 2
- SGSH 0
- SHOC2 1
- SI 0
- SLC16A1 0
- SLC17A5 0
- SLC19A2 0
- SLC19A3 0
- SLC22A5 1
- SLC25A1 0
- SLC25A13 0
- SLC25A15 0
- SLC25A19 0
- SLC25A20 0
- SLC25A22 0
- SLC25A26 0
- SLC25A3 0
- SLC25A38 0
- SLC25A4 3
- SLC25A46 0
- SLC2A2 0
- SLC30A10 0
- SLC35A1 1
- SLC35C1 0
- SLC35D1 0
- SLC37A4 0
- SLC39A14 0
- SLC39A4 0
- SLC39A8 0
- SLC40A1 0
- SLC46A1 0
- SLC4A3 0
- SLC52A2 0
- SLC52A3 0
- SLC5A1 0
- SLC6A19 1
- SLC7A7 0
- SMPD1 0
- SNTA1 3
- SOS1 1
- SOS2 0
- SPG7 0
- SPRED1 0
- SRD5A3 0
- SSR4 0
- ST3GAL5 0
- SUCLA2 0
- SUCLG1 0
- SUMF1 0
- SUOX 0
- SURF1 0
- SYNE1 0
- TACO1 0
- TALDO1 0
- TANGO2 0
- TAZ 1
- TCAP 3
- TFR2 0
- TIMM8A 0
- TK2 0
- TMEM165 0
- TMEM43 2
- TMEM5 1
- TMEM70 0
- TNNC1 2
- TNNI3 2
- TNNI3K 1
- TNNT2 2
- TPK1 0
- TPM1 2
- TPP1 0
- TRDN 2
- TRIM37 0
- TRMU 0
- TRNT1 0
- TRPM4 2
- TRPM6 0
- TSFM 0
- TTC19 0
- TTN 2
- TUSC3 0
- TWNK 0
- TYMP 0
- UGT1A1 0
- UMPS 0
- UROD 0
- UROS 0
- VARS2 0
- VCL 2
- WDR45 0
- XDH 0
- XYLT1 0
- XYLT2 0
- YARS2 0
- ABCG5 0
- ABCG8 0
- ABHD12 0
- ACTA1 1
- ACY1 0
- ADA 0
- ADSL 0
- ALAS2 0
- ALDH3A2 0
- ALG13 0
- ALPL 0
- ANKRD1 1
- APOB 0
- ASAH1 0
- CACNA2D1 2
- CISD2 0
- CLDN16 0
- CLDN19 0
- COA3 0
- COA6 0
- COL4A1 0
- CRYAB 1
- CSTB 0
- CTSC 0
- CYCS 0
- CYP7B1 0
- DCC 0
- DCXR 0
- DHCR24 0
- DHCR7 0
- DHDDS 0
- DHODH 0
- DPM3 0
- DYSF 0
- FECH 0
- FGFR2 0
- FLNC 1
- FTCD 0
- FXN 1
- GAMT 0
- GATAD1 1
- GK 0
- GLUL 0
- GNMT 0
- HADH 0
- HPD 0
- HPS1 0
- HSD17B10 0
- ISCU 0
- JPH2 1
- KCNJ8 1
- LBR 0
- LDLR 0
- LDLRAP1 0
- LIPC 0
- MAGT1 0
- MANBA 0
- MAOA 0
- MOCS1 0
- MOCS2 0
- MRPL3 0
- MTFMT 0
- MTPAP 0
- MT-RNR2 0
- MT-TT 0
- MVK 0
- MYLK2 2
- MYPN 1
- NDUFA4 0
- NDUFB9 0
- OCRL 0
- OPLAH 0
- PANK2 0
- PARS2 1
- PCK1 0
- PCSK9 0
- PDPR 0
- PEPD 0
- PGAM2 0
- PHGDH 0
- PIGM 0
- PINK1 0
- PNP 0
- POR 0
- PRPS1 0
- PSAT1 0
- PSEN1 0
- PSEN2 0
- PSPH 0
- PTS 0
- QARS 1
- RANBP2 1
- RBP4 0
- RNASEH2A 0
- RNASEH2B 0
- RNASEH2C 0
- RNASET2 0
- SC5D 0
- SDHAF2 0
- SDHC 0
- SETX 0
- SKIV2L 0
- SLC12A3 0
- SLC18A2 0
- SLC25A12 0
- SLC2A1 0
- SLC35A2 0
- SLC3A1 0
- SLC6A3 0
- SLC6A8 0
- SLC7A9 0
- SPR 0
- SPTLC1 0
- SPTLC2 0
- ST3GAL3 0
- STS 0
- STT3A 0
- TARS2 0
- TAT 0
- TCN2 0
- TH 0
- TIMM50 0
- TMEM126B 0
- TREX1 0
- TTC37 0
- TTPA 0
- TTR 2
- TUFM 0
- UMOD 0
- UQCRB 0
- UQCRQ 1
- UROC1 0
- VIPAS39 0
- VKORC1 0
- VPS33B 0
- WFS1 0
- XPNPEP3 0
- A2ML1 0
- ABCG2 0
- AHCY 0
- AKAP9 2
- ALDH1B1 0
- ALG10 1
- ALG10B 1
- ALG14 0
- ALG2 0
- ALMS1 1
- AMPD1 0
- ANO5 0
- AOX1 0
- ARSG 0
- ASCL1 0
- ATAD3B 0
- ATP5A1 1
- ATP5B 1
- ATP5C1 1
- ATP5E 1
- ATP5G1 1
- ATP5G2 1
- ATP5G3 1
- ATP5I 1
- ATP5J 1
- ATP5O 1
- ATXN7 0
- BCAT1 0
- BCAT2 0
- BDNF 0
- BOLA1 0
- BOLA2 0
- C1GALT1C1 0
- CAD 0
- CALM3 0
- CALR3 1
- CARS2 0
- CAV3 1
- CAVIN4 0
- CD320 0
- CEP89 0
- CETP 0
- CLPS 0
- CNDP1 0
- COA1 0
- COA5 0
- COG2 0
- COL4A2 0
- COQ7 0
- COX4I1 0
- COX4I2 0
- COX5A 0
- COX5B 0
- COX6C 0
- COX7A1 0
- COX7A2 0
- COX7B2 0
- COX7C 0
- COX8A 0
- CTF1 0
- CTNNA3 0
- CYP7A1 0
- DDOST 0
- DHFR2 0
- DLG1 0
- DLST 0
- DMGDH 0
- DMPK 0
- DNM2 0
- DPEP1 0
- DPP6 0
- DTD1 0
- DTNA 1
- DUX4 0
- ECSIT 0
- EDN3 0
- EGF 0
- EMD 1
- ERCC6L2 0
- FBP2 0
- FDX2 0
- FHL2 0
- FOLR2 0
- FOLR3 0
- FXYD2 0
- GALNT12 0
- GATB 0
- GATC 0
- GCSH 0
- GDNF 0
- GFM2 0
- GGT1 0
- GJA5 1
- GLS 0
- GORAB 0
- HAL 0
- HARS2 0
- HSPA9 0
- HYKK 0
- IDH3B 0
- ILK 1
- ISCA2 0
- KCNA5 1
- KCND2 0
- KCND3 1
- KCNE5 0
- KHK 0
- KLF10 1
- LACTB 0
- LAMA4 1
- LARS 1
- LETM1 0
- LFNG 0
- LIPI 0
- LIPT2 0
- LRP5 0
- LYRM4 0
- LYRM7 0
- MECR 0
- MIB1 1
- MPC1 0
- MPO 0
- MRPL12 0
- MRPL40 0
- MRPS16 0
- MRPS2 0
- MRPS23 0
- MRPS7 0
- MTHFD1 0
- MYO6 0
- MYOM1 0
- MYOZ2 1
- NADK2 0
- NAT8L 0
- NAXE 0
- NDUFA12 0
- NDUFA13 0
- NDUFA3 0
- NDUFA5 0
- NDUFA6 0
- NDUFA7 0
- NDUFA8 0
- NDUFA9 0
- NDUFAB1 0
- NDUFB1 0
- NDUFB10 0
- NDUFB2 0
- NDUFB4 0
- NDUFB5 0
- NDUFB6 0
- NDUFB7 0
- NDUFB8 0
- NDUFC1 0
- NDUFC2 0
- NDUFS5 0
- NDUFV3 0
- NEBL 0
- NFS1 0
- NKX2-5 1
- NNT 0
- NOS1AP 0
- NPPA 1
- NT5C 0
- NUP62 0
- NUS1 0
- OGDH 0
- OXA1L 0
- PABPN1 0
- PDK1 0
- PDK2 0
- PDK3 0
- PDK4 0
- PDLIM3 1
- PDP2 0
- PDXK 0
- PEX11A 0
- PHKG1 0
- PHYKPL 0
- PIGW 0
- PITRM1 1
- PLEC 0
- PNLIP 0
- PNPLA4 0
- PNPLA8 0
- POP1 0
- PPM1B 0
- PPM1K 0
- PRDM16 1
- PREPL 0
- PTCD1 0
- PTPRZ1 0
- QRSL1 0
- RANGRF 1
- RASA2 0
- RET 0
- RTN4IP1 0
- SARDH 0
- SCARB1 0
- SCN2B 0
- SCN4B 2
- SFXN4 0
- SGCB 1
- SGCG 1
- SHPK 0
- SLC22A4 0
- SLC25A2 0
- SLC25A40 0
- SLC25A42 0
- SLC27A5 0
- SLC35A3 0
- SLC36A2 0
- SLC52A1 0
- SLC6A20 1
- SLC6A4 0
- SLCO1B1 0
- SLCO1B3 0
- SLMAP 0
- SMCHD1 0
- SRRT 0
- STAT2 0
- STT3B 0
- SUCLG2 0
- SUGCT 0
- SYNE2 0
- TBX20 1
- TCN1 0
- TDO2 0
- TGFB3 1
- TIMM44 0
- TM6SF2 0
- TMEM126A 0
- TMEM199 1
- TMPO 2
- TPMT 0
- TRAP1 0
- TRAPPC11 0
- TREH 0
- TRIM63 0
- TRIT1 0
- TRMT10C 0
- TRMT5 0
- TSPYL1 0
- TXN2 0
- TXNRD2 1
- UPB1 0
- UQCC2 0
- UQCC3 0
- UQCRC1 0
- UQCRC2 0
- UQCRFS1 0
- UQCRH 0
- USF1 0
- VPS13C 0
- WARS2 0
- XK 0
This Panel is marked as Internal
Molecular autopsy
Gene: FKRP Green List (high evidence)
FKRP (fukutin related protein)
EnsemblGeneIds (GRCh38): ENSG00000181027
EnsemblGeneIds (GRCh37): ENSG00000181027
OMIM: 606596, Gene2Phenotype
FKRP is in 21 panels
EnsemblGeneIds (GRCh38): ENSG00000181027
EnsemblGeneIds (GRCh37): ENSG00000181027
OMIM: 606596, Gene2Phenotype
FKRP is in 21 panels
1 review
Ellen McDonagh (Genomics England Curator)
I don't know
This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.Created: 20 Feb 2019, 2:17 p.m.
Created: 20 Feb 2019, 2:17 p.m.
Panel version: 0.86
Panel version: 0.86
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- London South GLH
- Expert Review Green
- Phenotypes
-
- Fukutin-related protein deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5
- Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 613153
- Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 606612
- Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 607155
- OMIM
- 606596
- Clinvar variants
- Variants in FKRP
- Penetrance
- None
- Publications
- Panels with this gene
-
- Cerebellar hypoplasia
- Bilateral congenital or childhood onset cataracts
- Acute rhabdomyolysis
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Fetal anomalies
- Dilated and arrhythmogenic cardiomyopathy
- DDG2P
- Ataxia and cerebellar anomalies - narrow panel
- Undiagnosed metabolic disorders
- Childhood onset dystonia, chorea or related movement disorder
- Early onset or syndromic epilepsy
- Rhabdomyolysis and metabolic muscle disorders
- Hydrocephalus
- Malformations of cortical development
- Paediatric or syndromic cardiomyopathy
- Congenital muscular dystrophy
- Likely inborn error of metabolism
- Congenital disorders of glycosylation
- Intellectual disability
- Arthrogryposis
- Structural eye disease
History Filter Activity
20 Feb 2019, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)Source London South GLH was added to FKRP.
20 Dec 2018, Gel status: 4
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Added phenotypes Fukutin-related protein deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies); Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5; Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 613153; Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 606612; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 607155 for gene: FKRP
20 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: FKRP was added gene: FKRP was added to Molecular autopsy. Sources: Expert Review Green Mode of inheritance for gene: FKRP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FKRP were set to 27604308 Phenotypes for gene: FKRP were set to Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 606612; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 613153; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 607155; Fukutin-related protein deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)