- Panels
- Structural eye disease
- KLHL7
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
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Structural eye disease
Gene: KLHL7 Red List (low evidence)
KLHL7 (kelch like family member 7)
EnsemblGeneIds (GRCh38): ENSG00000122550
EnsemblGeneIds (GRCh37): ENSG00000122550
OMIM: 611119, Gene2Phenotype
KLHL7 is in 7 panels
EnsemblGeneIds (GRCh38): ENSG00000122550
EnsemblGeneIds (GRCh37): ENSG00000122550
OMIM: 611119, Gene2Phenotype
KLHL7 is in 7 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 42; 612943
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 42, 612943
Created: 17 Apr 2019, 3:30 p.m.
Panel version: 0.38
Panel version: 0.38
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- NHS GMS
- Expert Review Red
- Phenotypes
-
- Retinitis pigmentosa 42, 612943
- Eye Disorders
- OMIM
- 611119
- Clinvar variants
- Variants in KLHL7
- 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 KLHL7. Mode of inheritance for gene KLHL7 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Retinitis pigmentosa 42, 612943 for gene: KLHL7
3 Jan 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: KLHL7 was added gene: KLHL7 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: KLHL7 was set to Phenotypes for gene: KLHL7 were set to Eye Disorders