- Panels
- Structural eye disease
- C12orf57
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: C12orf57 Green List (high evidence)
C12orf57 (chromosome 12 open reading frame 57)
EnsemblGeneIds (GRCh38): ENSG00000111678
EnsemblGeneIds (GRCh37): ENSG00000111678
OMIM: 615140, Gene2Phenotype
C12orf57 is in 6 panels
EnsemblGeneIds (GRCh38): ENSG00000111678
EnsemblGeneIds (GRCh37): ENSG00000111678
OMIM: 615140, Gene2Phenotype
C12orf57 is in 6 panels
2 reviews
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)
Green List (high evidence)
DB Zahrani et al. 2013: 2 unrelated cases, Patel et al. 2018: 5 unrelated casesCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Temtamy syndrome, 218340
Publications
Created: 19 Jun 2019, 3:32 p.m.
Panel version: 0.76
Panel version: 0.76
Ivone Leong (Genomics England Curator)
Green List (high evidence)
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). DB Zahrani et al. 2013: 2 unrelated cases, Patel et al. 2018: 5 unrelated casesCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Temtamy syndrome, 218340
Publications
Variants in this GENE are reported as part of current diagnostic practice
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 Green
- Phenotypes
-
- Temtamy syndrome, 218340
- OMIM
- 615140
- Clinvar variants
- Variants in C12orf57
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
17 Apr 2019, Gel status: 4
Added New Source, Set Phenotypes, Set publications
Ivone Leong (Genomics England Curator)Source NHS GMS was added to C12orf57. Added phenotypes Temtamy syndrome, 218340 for gene: C12orf57 Publications for gene C12orf57 were changed from 23453665, 24859618 to 23453665 24859618
3 Jan 2019, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: C12orf57 was added gene: C12orf57 was added to Structural eye disease. Sources: Expert Review Green Mode of inheritance for gene: C12orf57 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C12orf57 were set to 23453665, 24859618 Phenotypes for gene: C12orf57 were set to Temtamy syndrome, 218340