- Panels
- Structural eye disease
- CACNA2D4
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
- ARR3 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
- EFEMP1 5
- EPHA2 5
- ESCO2 2
- FAT1 2
- FBN1 2
- FKTN 2
- FOXC1 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
- NR6A1 3
- 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
- TOMM7 2
- TUBGCP4 2
- VSX2 3
- WDR37 3
- WLS 3
- YAP1 2
- ZEB2 2
- AIPL1 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
- 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
- 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
- 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
- FOXD3 4
- 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: CACNA2D4 Red List (low evidence)
CACNA2D4 (calcium voltage-gated channel auxiliary subunit alpha2delta 4)
EnsemblGeneIds (GRCh38): ENSG00000151062
EnsemblGeneIds (GRCh37): ENSG00000151062
OMIM: 608171, Gene2Phenotype
CACNA2D4 is in 3 panels
EnsemblGeneIds (GRCh38): ENSG00000151062
EnsemblGeneIds (GRCh37): ENSG00000151062
OMIM: 608171, Gene2Phenotype
CACNA2D4 is in 3 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
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Retinal cone dystrophy 4; 610478
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
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Retinal cone dystrophy 4, 610478
Created: 17 Apr 2019, 3:30 p.m.
Panel version: 0.38
Panel version: 0.38
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Red
- Phenotypes
-
- Retinal cone dystrophy 4, 610478
- Eye Disorders
- OMIM
- 608171
- Clinvar variants
- Variants in CACNA2D4
- 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 CACNA2D4. Mode of inheritance for gene CACNA2D4 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Retinal cone dystrophy 4, 610478 for gene: CACNA2D4
3 Jan 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: CACNA2D4 was added gene: CACNA2D4 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: CACNA2D4 was set to Phenotypes for gene: CACNA2D4 were set to Eye Disorders