- AAAS 1
- ABCB11 1
- ABCB4 1
- ABCC6 1
- ABCC8 2
- ABCD1 1
- ABCD4 1
- ACAD9 1
- ACADM 1
- ACADVL 2
- ACAT1 1
- ACOX2 1
- ADA 2
- ADA2 1
- ADAMTS13 1
- AGL 1
- AGPAT2 1
- AGRN 2
- AGXT 1
- AICDA 1
- AIRE 1
- AK2 1
- AKR1D1 1
- ALDH7A1 1
- ALDOB 1
- ALG14 2
- ALG2 2
- ALPK1 1
- ALPL 2
- AMACR 1
- AMH 1
- AMHR2 1
- AMN 1
- ANOS1 1
- AP3B1 1
- AP3D1 1
- APOA5 1
- APOB 2
- APOC2 1
- APRT 1
- AQP2 2
- ARG1 1
- ARMC4 1
- ARPC1B 1
- ARSA 2
- ARSB 1
- ASL 2
- ASS1 1
- ATP6V0A4 1
- ATP6V1B1 1
- ATP7B 1
- ATP8B1 1
- AVP 2
- AVPR2 1
- BAAT 1
- BCKDHA 1
- BCKDHB 1
- BCKDK 1
- BLNK 1
- BMP1 1
- BSCL2 1
- BTD 2
- BTK 1
- C11orf70 1
- C17orf62 1
- C2 1
- C21orf59 1
- C3 2
- C5 1
- C6 1
- C7 1
- C8A 1
- C8B 1
- C9 1
- CA2 1
- CA5A 1
- CAD 1
- CASR 2
- CAV1 1
- CAVIN1 1
- CBS 1
- CCBE1 1
- CCDC103 2
- CCDC114 1
- CCDC151 1
- CCDC39 1
- CCDC40 1
- CCDC65 2
- CCNO 1
- CD247 1
- CD3D 1
- CD3E 1
- CD3G 1
- CD40 1
- CD40LG 1
- CD70 1
- CD79A 1
- CD79B 1
- CDCA7 1
- CDKN1C 2
- CEBPE 1
- CFD 1
- CFH 2
- CFI 1
- CFP 1
- CFTR 2
- CHAT 2
- CHRNA1 2
- CHRNB1 2
- CHRND 2
- CHRNE 2
- CIITA 1
- CLCN7 2
- CLPB 1
- COL13A1 2
- COL1A1 2
- COL1A2 2
- COL4A3 2
- COL4A4 2
- COL4A5 2
- COLQ 2
- COQ2 1
- COQ4 2
- COQ5 1
- COQ6 1
- COQ7 1
- COQ8A 1
- COQ8B 1
- COQ9 1
- CORO1A 1
- CPS1 1
- CPT1A 1
- CPT2 2
- CSF3R 1
- CTNS 2
- CTPS1 2
- CUBN 1
- CUL3 2
- CXCR4 1
- CYBA 1
- CYBB 1
- CYP11A1 2
- CYP11B1 2
- CYP11B2 1
- CYP17A1 2
- CYP24A1 1
- CYP27A1 1
- CYP27B1 1
- CYP2R1 1
- CYP7B1 2
- DBT 1
- DCLRE1C 2
- DDB2 1
- DDC 1
- DGAT1 1
- DHFR 1
- DMP1 1
- DNAAF1 1
- DNAAF2 1
- DNAAF3 1
- DNAAF4 1
- DNAAF5 1
- DNAH11 1
- DNAH5 1
- DNAH9 1
- DNAI1 1
- DNAI2 1
- DNAJC12 1
- DNAJC21 1
- DNAL1 1
- DNMT3B 1
- DOCK2 1
- DOCK8 1
- DOK7 2
- DPAGT1 2
- DRC1 1
- DUOX2 1
- DUOXA2 1
- EDA 2
- EDAR 2
- EDARADD 2
- EFL1 1
- EIF2AK3 1
- ELANE 1
- ENPP1 1
- ERCC2 2
- ERCC3 1
- ERCC5 1
- ETFA 1
- ETFB 1
- ETFDH 1
- F10 1
- F13A1 1
- F13B 1
- F2 1
- F5 1
- F7 2
- F8 2
- F9 2
- FAH 1
- FAM111A 1
- FBP1 1
- FCHO1 1
- FECH 2
- FERMT3 1
- FGA 1
- FGB 1
- FGF23 2
- FGG 1
- FKBP10 1
- FLAD1 1
- FOLR1 1
- FOXE1 1
- FOXJ1 1
- FOXN1 2
- FOXP3 1
- G6PC 1
- G6PC3 1
- GAA 2
- GALE 1
- GALK1 1
- GALNS 1
- GALNT3 1
- GALT 1
- GAMT 2
- GAS8 2
- GATA3 1
- GATM 2
- GCDH 1
- GCK 2
- GCM2 1
- GFI1 1
- GFPT1 2
- GH1 2
- GHR 1
- GHRHR 1
- GIF 1
- GLIS3 1
- GLUD1 1
- GNRH1 1
- GP1BA 2
- GP1BB 2
- GP9 2
- GPIHBP1 1
- GPR101 2
- GRHPR 1
- GUSB 1
- HADH 1
- HADHA 1
- HADHB 1
- HAX1 1
- HBB 2
- HELLS 1
- HESX1 1
- HK1 2
- HLCS 1
- HMGCL 1
- HMGCS2 1
- HOGA1 1
- HSD11B2 1
- HSD3B2 2
- HSD3B7 1
- HYDIN 1
- IDS 1
- IDUA 2
- IFITM5 2
- IFNGR1 2
- IFNGR2 1
- IGF1 1
- IGHM 1
- IGLL1 1
- IGSF1 1
- IKBKB 1
- IL10 1
- IL10RA 1
- IL10RB 1
- IL12B 1
- IL12RB1 1
- IL2RA 1
- IL2RB 1
- IL2RG 2
- IL7R 2
- INS 2
- IRAK4 1
- IRF8 1
- IRS4 1
- ITCH 1
- ITGA2B 2
- ITGB2 1
- ITGB3 2
- ITK 1
- IVD 1
- IYD 1
- JAGN1 1
- JAK3 2
- KCNJ1 1
- KCNJ11 2
- KDELR2 1
- KISS1R 1
- KLHL3 2
- LAT 1
- LCK 1
- LCT 1
- LDLR 2
- LDLRAP1 1
- LEP 1
- LEPR 2
- LHX3 1
- LIG1 1
- LIG4 1
- LIPA 2
- LMBRD1 1
- LMF1 1
- LPIN1 1
- LPL 1
- LRP5 2
- LRRC56 1
- LRRC6 1
- LYST 1
- MAGT1 2
- MAN2B1 1
- MC2R 1
- MCEE 1
- MCIDAS 1
- MCM4 2
- MESD 1
- MMAA 1
- MMAB 1
- MMACHC 1
- MMADHC 2
- MPI 1
- MPL 1
- MRAP 1
- MSN 1
- MTHFD1 1
- MTHFR 1
- MTR 1
- MTRR 1
- MTTP 1
- MUSK 2
- MUT 1
- MYD88 1
- MYSM1 1
- NAGS 2
- NBN 1
- NCF2 1
- NCF4 1
- NEUROD1 1
- NEUROG3 1
- NFKBIA 1
- NHEJ1 1
- NLRP3 2
- NNT 1
- NR0B1 2
- NR3C2 1
- NR5A1 2
- OAS1 1
- OAT 1
- OTC 2
- OTOF 2
- OXCT1 1
- PAH 2
- PAX1 1
- PAX8 1
- PCCA 1
- PCCB 1
- PCK1 1
- PCSK1 1
- PDHA1 1
- PDSS1 1
- PDSS2 1
- PGM1 1
- PHEX 2
- PHKA2 1
- PHKG2 1
- PIH1D3 2
- PIK3R1 1
- PKLR 1
- PLOD2 1
- PLPBP 1
- PLS3 2
- PNP 1
- PNPO 1
- POLA1 1
- POLE 2
- POLH 1
- POMC 1
- POR 2
- POU1F1 2
- PPOX 1
- PREPL 2
- PRF1 1
- PRKDC 1
- PROK2 1
- PROP1 1
- PSTPIP1 1
- PTF1A 1
- PTH 1
- PTPRC 1
- PTS 1
- PYGL 1
- QDPR 1
- RAB27A 1
- RAG1 2
- RAG2 2
- RAPSN 2
- RASGRP1 1
- RB1 1
- REST 1
- RET 3
- RFX5 1
- RFXANK 1
- RFXAP 1
- RNPC3 1
- RPE65 2
- RPL11 1
- RPL15 1
- RPL26 1
- RPL35A 1
- RPL5 1
- RPS10 1
- RPS17 1
- RPS19 1
- RPS24 1
- RPS26 1
- RPS29 1
- RPS7 1
- RPSA 1
- RSPH1 1
- RSPH3 1
- RSPH4A 1
- RSPH9 1
- SAMD9 2
- SAR1B 1
- SBDS 2
- SCN4A 2
- SCNN1A 1
- SCNN1B 1
- SCNN1G 1
- SERPINF1 1
- SERPINH1 1
- SGPL1 1
- SH2D1A 1
- SI 1
- SKIV2L 2
- SLC12A1 1
- SLC18A3 2
- SLC19A1 1
- SLC19A2 1
- SLC19A3 2
- SLC22A5 1
- SLC25A1 2
- SLC25A13 1
- SLC25A15 1
- SLC25A20 1
- SLC26A7 2
- SLC2A1 2
- SLC30A10 1
- SLC34A1 1
- SLC34A3 1
- SLC37A4 1
- SLC39A4 1
- SLC39A7 1
- SLC46A1 1
- SLC4A1 2
- SLC52A2 1
- SLC52A3 1
- SLC5A1 1
- SLC5A5 1
- SLC5A7 2
- SLC7A7 1
- SMARCD2 1
- SMN1 2
- SNX10 1
- SP110 1
- SPAG1 1
- SPARC 1
- SPPL2A 1
- SRP54 1
- STAR 2
- STAT1 1
- STAT2 1
- STAT3 1
- STAT5B 1
- STK4 1
- STX11 1
- STXBP2 1
- SYT2 2
- TACR3 1
- TAP1 1
- TAP2 1
- TAPBP 1
- TAT 1
- TAZ 1
- TBL1X 1
- TBX19 1
- TCF3 2
- TCIRG1 1
- TCN2 1
- TF 1
- TFRC 1
- TG 1
- TH 1
- THRA 1
- THRB 2
- TJP2 1
- TLR3 1
- TMEM38B 1
- TNFRSF11A 1
- TNFRSF11B 1
- TPK1 1
- TPO 1
- TRAC 1
- TRHR 1
- TRIM28 1
- TRPM6 1
- TSHB 1
- TSHR 1
- TTC25 1
- TTC37 2
- TTC7A 1
- TTPA 1
- UGT1A1 1
- UMPS 1
- UNC13D 1
- UNG 1
- UROD 1
- UROS 1
- USB1 1
- USP53 1
- VAMP1 2
- VDR 2
- VPS45 1
- WAS 1
- WNK1 2
- WNT1 1
- WT1 2
- XIAP 1
- XPA 1
- XPC 1
- ZAP70 1
- ZBTB24 1
- ZFYVE19 1
- ZMYND10 1
- ZNFX1 1
- ABCC9 1
- ABCG5 1
- ABCG8 1
- ACVR1 1
- ADAR 1
- AHCY 1
- AKT2 1
- ALAD 1
- ALAS2 1
- ALDH4A1 1
- ALK 1
- APOE 1
- APPL1 1
- ARMC5 1
- ATP7A 1
- BCL10 1
- BRCA1 1
- BRCA2 1
- BRIP1 1
- BSND 1
- C1QA 1
- C1QB 1
- C1QC 1
- CA12 1
- CACNA1A 1
- CACNA1C 1
- CACNA1D 1
- CACNA1H 1
- CACNA1S 1
- CALM1 1
- CALM2 1
- CALM3 1
- CARD11 1
- CARD14 1
- CASQ2 2
- CD19 1
- CD27 1
- CD320 1
- CD46 1
- CD55 1
- CD81 1
- CEL 1
- CFB 2
- CFHR1 1
- CLCN1 1
- CLCN2 1
- CLCNKB 1
- COPA 1
- CP 1
- CPOX 1
- CR2 1
- CTLA4 1
- CYB561 1
- CYP21A2 3
- DBH 1
- DGKE 1
- DICER1 1
- DIS3L2 1
- DMD 1
- DNASE2 1
- ECHS1 1
- EIF2S3 1
- ELF4 1
- EPCAM 2
- ERCC4 1
- ERCC6L2 1
- F11 1
- FANCA 1
- FANCB 1
- FANCC 1
- FANCD2 1
- FANCE 1
- FANCF 1
- FANCG 1
- FANCI 1
- FANCL 1
- FARS2 1
- FGFR3 1
- FOXA2 1
- FOXI1 1
- FUCA1 1
- FXN 1
- FXYD2 1
- G6PD 1
- GALC 1
- GALM 1
- GATA1 1
- GATA2 1
- GATA4 1
- GATA6 1
- GBA 2
- GCH1 1
- GGCX 1
- GLA 1
- GLRA1 1
- GLRB 1
- GLRX5 1
- GNAS 1
- GNE 1
- GOT2 1
- GRIN2A 1
- GYS2 1
- HAMP 1
- HAVCR2 1
- HBA1 1
- HBA2 2
- HCFC1 1
- HFE2 1
- HGD 1
- HIBCH 1
- HMBS 1
- HNF1A 1
- HNF1B 1
- HOXA11 1
- HSCB 1
- HSPA9 1
- IARS 1
- ICOS 1
- IER3IP1 1
- IFIH1 1
- IGFALS 1
- IKBKG 2
- IKZF1 1
- IL1RN 1
- IL21 1
- IL21R 1
- IL36RN 1
- INSR 1
- IRF2BP2 1
- JAK1 1
- KCNA1 1
- KCNE1 1
- KCNH2 2
- KCNJ2 1
- KCNJ5 1
- KCNJ8 1
- KCNQ1 2
- KCNQ2 3
- KCNT1 2
- KDM1A 1
- KDSR 1
- LAMTOR2 1
- LARS 1
- LHX4 1
- LMAN1 1
- LMNA 1
- LPIN2 1
- LRBA 1
- LRP4 1
- LSM11 1
- MAD2L2 1
- MAGED2 2
- MALT1 1
- MAP3K14 1
- MARS 1
- MCCC1 1
- MCCC2 1
- MCFD2 1
- MECOM 1
- MEFV 2
- MLH1 1
- MLYCD 1
- MNX1 1
- MOCS1 1
- MS4A1 1
- MSH2 1
- MSH6 1
- MTHFS 1
- MVK 2
- MYO9A 1
- NAGLU 1
- NAXD 1
- NAXE 1
- NCF1 2
- NFKB1 1
- NFKB2 1
- NIPAL4 1
- NKX2-1 1
- NKX2-2 1
- NLRC4 1
- NLRP12 1
- NOD2 1
- NPC1 1
- NPC2 1
- ORAI1 1
- OTULIN 2
- PALB2 1
- PAPPA2 1
- PCSK9 1
- PDGFRB 1
- PDX1 1
- PGM3 1
- PHGDH 1
- PHKA1 1
- PHKB 1
- PHOX2B 1
- PIK3CA 2
- PIK3CD 1
- PLCG2 1
- PLG 2
- PMM2 1
- PMS2 1
- POMP 1
- PRDX1 1
- PRKCD 1
- PROKR2 1
- PRPS1 1
- PRRT2 1
- PSAP 1
- PSAT1 1
- PSMB10 1
- PSMB4 1
- PSMB8 1
- PSMB9 1
- PSMG2 1
- PSPH 1
- RAC2 1
- RAD51 1
- RAD51C 1
- REL 1
- RELA 1
- RELB 1
- RFWD3 1
- RFX6 1
- RMRP 1
- RNASEH2A 1
- RNASEH2B 1
- RNASEH2C 1
- RNU7-1 1
- RPL18 1
- RPL27 1
- RPL31 2
- RPL35 1
- RPS15A 1
- RPS27 1
- RPS28 1
- RPS9 1
- RYR2 1
- SAMD9L 2
- SAMHD1 1
- SARS 1
- SCN1A 3
- SCN2A 3
- SCN3A 1
- SCN5A 2
- SCN8A 3
- SERPINA1 1
- SERPING1 2
- SFTPC 1
- SLC13A5 1
- SLC16A1 1
- SLC16A2 1
- SLC18A2 1
- SLC1A3 1
- SLC25A38 1
- SLC26A3 2
- SLC26A4 1
- SLC2A2 1
- SLC35A2 1
- SLC35C1 1
- SLC39A14 1
- SLC39A8 1
- SLC40A1 1
- SLC4A4 1
- SLC5A6 1
- SLC6A5 1
- SLC6A6 1
- SLC6A8 1
- SLC9A3 2
- SLX4 1
- SMARCA4 1
- SMARCB1 1
- SMPD1 1
- SNAP25 1
- SORD 1
- SOX3 1
- SPINT2 2
- SPR 1
- SPTLC1 1
- SPTLC2 1
- STIM1 1
- STX16 1
- TECRL 2
- TFR2 1
- THAP11 1
- THBD 1
- TK2 1
- TMEM165 1
- TNFAIP3 1
- TNFRSF13C 1
- TNFRSF1A 2
- TOP2B 1
- TP53 1
- TPP1 2
- TRDN 2
- TREX1 1
- TRMU 1
- TRNT1 1
- TSC1 1
- TSC2 1
- TSR2 1
- TTR 1
- TXNRD2 1
- UBE2T 1
- USP18 1
- VKORC1 1
- WDR1 1
- WIPF1 1
- WNK4 1
- XRCC2 1
- ZFP57 1
- ZNF143 1
- AP2S1 1
- APC 1
- BMPR1A 1
- CHD7 1
- GNA11 1
- HFE 1
- HNF4A 1
- KL 1
- KLF11 1
- MUTYH 1
- NF1 1
- PKD1 1
- PKD2 1
- SCARB2 1
- SLC12A3 1
- SLC30A2 1
- SMAD4 1
- TNFRSF13B 1
- UCP2 1
- WDR72 1
- WFS1 1
Newborns main panel
Gene: CD70 Green List (high evidence)EnsemblGeneIds (GRCh38): ENSG00000125726
EnsemblGeneIds (GRCh37): ENSG00000125726
OMIM: 602840, Gene2Phenotype
CD70 is in 2 panels
1 review
Mafalda Gomes (Genomics England Curator)
The mechanism of pathogenicity is loss-of-function (LOF).Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
clinical validity. 16 cases PMID: 32603431Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Lymphoproliferative syndrome 3
- OMIM
- 602840
- Clinvar variants
- Variants in CD70
- Penetrance
- None
- Panels with this gene
History Filter Activity
Removed Tag
Arina Puzriakova (Genomics England Curator)Tag special_consideration was removed from gene: CD70.
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: CD70 were changed from Immune dysregulation 3 to Lymphoproliferative syndrome 3
Added Tag
Arina Puzriakova (Genomics England Curator)Tag special_consideration tag was added to gene: CD70.
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: CD70 were changed from Lymphoproliferative syndrome 3 to Immune dysregulation 3
Set Phenotypes
Mafalda Gomes (Genomics England Curator)Added phenotypes Lymphoproliferative syndrome 3 for gene: CD70
Set Phenotypes
Mafalda Gomes (Genomics England Curator)Added phenotypes Lymphoproliferative syndrome 3 for gene: CD70
Set Phenotypes
Mafalda Gomes (Genomics England Curator)Added phenotypes Lymphoproliferative syndrome 3 for gene: CD70
Added New Source, Set Phenotypes, Status Update
Mafalda Gomes (Genomics England Curator)Source Expert Review Green was added to CD70. Added phenotypes Lymphoproliferative syndrome 3 for gene: CD70 Rating Changed from No List (delete) to Green List (high evidence)
Added New Source, Set Phenotypes, Status Update
Mafalda Gomes (Genomics England Curator)Source Expert Review Removed was added to CD70. Added phenotypes Lymphoproliferative syndrome 3 for gene: CD70 Rating Changed from Green List (high evidence) to No List (delete)
Set Phenotypes
Mafalda Gomes (Genomics England Curator)Added phenotypes Lymphoproliferative syndrome 3 for gene: CD70
Created, Added New Source, Set mode of inheritance
Mafalda Gomes (Genomics England Curator)gene: CD70 was added gene: CD70 was added to Newborns main panel. Sources: Expert Review Green Mode of inheritance for gene: CD70 was set to BIALLELIC, autosomal or pseudoautosomal