Genes in panel
- ACP5 0
- ACTB 0
- ADA 0
- ADA2 0
- ADAM17 0
- ADAR 0
- AICDA 0
- AIRE 0
- AK2 0
- AP1S3 0
- AP3B1 0
- APOL1 0
- ARPC1B 0
- ATM 0
- ATP6AP1 0
- B2M 0
- BACH2 0
- BCL10 0
- BCL11B 0
- BLM 0
- BLNK 0
- BLOC1S6 0
- BTK 0
- C17orf62 0
- C1QA 0
- C1QB 0
- C1QC 0
- C1R 0
- C1S 0
- C2 0
- C3 0
- C4A 0
- C4B 0
- C5 0
- C6 0
- C7 0
- C8A 0
- C8B 0
- C8G 0
- C9 0
- CARD11 0
- CARD14 0
- CARD9 0
- CARMIL2 0
- CASP10 0
- CASP8 0
- CCBE1 0
- CD19 0
- CD27 0
- CD3D 0
- CD3E 0
- CD3G 0
- CD40 0
- CD40LG 0
- CD46 0
- CD55 0
- CD59 0
- CD70 0
- CD79A 0
- CD79B 0
- CD81 0
- CD8A 0
- CDCA7 0
- CEBPE 0
- CFB 0
- CFD 0
- CFH 0
- CFHR1 0
- CFHR2 0
- CFHR3 0
- CFHR4 0
- CFHR5 0
- CFI 0
- CFP 0
- CHD7 0
- CIB1 0
- CIITA 0
- CLPB 0
- COL7A1 0
- COPA 0
- CORO1A 0
- CR2 0
- CSF2RA 0
- CSF3R 0
- CTLA4 0
- CTPS1 0
- CTSC 0
- CXCR4 0
- CYBA 0
- CYBB 0
- DBR1 0
- DCLRE1B 0
- DCLRE1C 0
- DKC1 0
- DNAJC21 0
- DNASE1L3 0
- DNASE2 0
- DNMT3B 0
- DOCK2 0
- DOCK8 0
- EFL1 0
- ELANE 0
- EPCAM 0
- EPG5 0
- ERCC2 0
- ERCC3 0
- ERCC6L2 0
- EXTL3 0
- F12 0
- FADD 0
- FAS 0
- FASLG 0
- FAT4 0
- FCGR3A 0
- FCHO1 0
- FCN3 0
- FERMT1 0
- FERMT3 0
- FOXN1 0
- FOXP3 0
- FPR1 0
- G6PC3 0
- G6PD 0
- GATA2 0
- GFI1 0
- GINS1 0
- GTF2H5 0
- GUCY2C 0
- HAVCR2 0
- HAX1 0
- HELLS 0
- HPS1 0
- HPS4 0
- HPS6 0
- HTRA2 0
- ICOS 0
- IFIH1 0
- IFNGR1 0
- IFNGR2 0
- IGHM 0
- IGLL1 0
- IKBKB 0
- IKBKG 0
- IKZF1 0
- IL10 0
- IL10RA 0
- IL10RB 0
- IL12B 0
- IL12RB1 0
- IL17F 0
- IL17RA 0
- IL17RC 0
- IL1RN 0
- IL21 0
- IL21R 0
- IL2RA 0
- IL2RB 0
- IL2RG 0
- IL36RN 0
- IL6ST 0
- IL7R 0
- INO80 0
- IRAK4 0
- IRF7 0
- IRF8 0
- ISG15 0
- ITCH 0
- ITGAM 0
- ITGB2 0
- ITK 0
- JAGN1 0
- JAK3 0
- LAMTOR2 0
- LAT 0
- LCK 0
- LIG1 0
- LIG4 0
- LPIN2 0
- LRBA 0
- LYST 0
- MAGT1 0
- MALT1 0
- MAP3K14 0
- MASP2 0
- MCM4 0
- MEFV 0
- MOGS 0
- MS4A1 0
- MSN 0
- MTHFD1 0
- MVK 0
- MYD88 0
- MYSM1 0
- NBN 0
- NCF1 0
- NCF2 0
- NCF4 0
- NFAT5 0
- NFE2L2 1
- NFKB1 0
- NFKB2 0
- NFKBIA 0
- NFKBID 0
- NHEJ1 0
- NHP2 0
- NLRC4 0
- NLRP1 0
- NLRP12 0
- NLRP3 0
- NOD2 0
- OAS1 0
- ORAI1 0
- OTULIN 0
- PARN 0
- PAX1 0
- PEPD 0
- PGM3 0
- PIK3CD 0
- PIK3R1 0
- PLCG2 0
- PMS2 0
- PNP 0
- POLA1 0
- POLE 0
- PRF1 0
- PRKCD 0
- PSMA3 0
- PSMB4 0
- PSMB8 0
- PSMB9 0
- PSTPIP1 0
- PTEN 0
- PTPRC 0
- RAB27A 0
- RAC2 1
- RAG1 0
- RAG2 0
- RASGRP1 0
- RBCK1 0
- RFX5 0
- RFXANK 0
- RFXAP 0
- RHOH 0
- RIPK1 0
- RMRP 0
- RNASEH2A 0
- RNASEH2B 0
- RNASEH2C 0
- RNF168 0
- RNF31 0
- RORC 0
- RPSA 0
- RTEL1 0
- SAMD9 0
- SAMHD1 0
- SBDS 0
- SEC61A1 0
- SEMA3E 0
- SERPING1 0
- SH2D1A 0
- SH3BP2 0
- SKIV2L 0
- SLC29A3 0
- SLC35C1 0
- SLC37A4 0
- SLC39A7 0
- SLC46A1 0
- SLC7A7 0
- SMARCAL1 0
- SMARCD2 0
- SP110 0
- SPINK5 0
- SRP54 0
- STAT1 0
- STAT2 0
- STAT3 0
- STAT5B 0
- STIM1 0
- STK4 0
- STX11 0
- STXBP2 0
- TAP1 0
- TAP2 0
- TAPBP 0
- TAZ 0
- TBK1 0
- TBX1 0
- TCF3 0
- TCN2 0
- TERC 0
- TERT 0
- TGFBR1 0
- THBD 0
- TICAM1 0
- TINF2 0
- TLR3 0
- TMC6 0
- TMC8 0
- TMEM173 0
- TNFAIP3 0
- TNFRSF13B 0
- TNFRSF13C 0
- TNFRSF1A 0
- TNFRSF4 0
- TNFRSF9 0
- TNFSF12 0
- TOP2B 0
- TPP1 0
- TPP2 0
- TRAC 0
- TRAF3 0
- TRAF3IP2 0
- TREX1 0
- TRIM22 0
- TRNT1 0
- TTC37 0
- TTC7A 0
- TYK2 0
- UNC13D 0
- UNC93B1 0
- UNG 0
- USB1 0
- USP18 0
- VPS13B 0
- VPS45 0
- WAS 0
- WDR1 0
- WIPF1 0
- XIAP 0
- ZAP70 0
- ZBTB24 0
- ZNF341 0
- ALPI 0
- DEF6 0
- ERBIN 0
- HMOX1 0
- ICOSLG 0
- IFNAR1 0
- IL6R 0
- IRF3 0
- IRF9 0
- JAK1 0
- MKL1 0
- NSMCE3 0
- POLD1 0
- POLR3A 0
- POLR3C 0
- RELA 0
- RELB 0
- SPPL2A 0
- TFRC 0
- TGFB1 0
- AP3D1 0
- ARHGEF1 0
- CD247 0
- FAAP24 0
- HYOU1 0
- IFNAR2 0
- IL12RB2 0
- IL23R 0
- IRAK1 0
- IRF2BP2 0
- NOP10 0
- POLD2 0
- POLE2 0
- POLR3F 0
- PSMG2 0
- REL 0
- SH3KBP1 0
- TIRAP 0
STRs in panel
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This Panel is marked as Deleted
Immunological disorders_SuperPanel_PanelAppAustralia
Gene: SH3KBP1 Red List (low evidence)
SH3KBP1 (SH3 domain containing kinase binding protein 1)
EnsemblGeneIds (GRCh38): ENSG00000147010
EnsemblGeneIds (GRCh37): ENSG00000147010
OMIM: 300374, Gene2Phenotype
SH3KBP1 is in 2 panels
EnsemblGeneIds (GRCh38): ENSG00000147010
EnsemblGeneIds (GRCh37): ENSG00000147010
OMIM: 300374, Gene2Phenotype
SH3KBP1 is in 2 panels
0 reviews
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert list
- Expert Review Red
- Phenotypes
-
- Immunodeficiency 61, MIM#300310
- OMIM
- 300374
- Clinvar variants
- Variants in SH3KBP1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
7 Apr 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: SH3KBP1 was added gene: SH3KBP1 was added to Immunological disorders_SuperPanel_PanelAppAustralia. Sources: Expert Review Red,Expert list Mode of inheritance for gene: SH3KBP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: SH3KBP1 were set to 21708930; 29636373 Phenotypes for gene: SH3KBP1 were set to Immunodeficiency 61, MIM#300310