- Panels
- Newborns main panel
- TTC37
- 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: TTC37 Green List (high evidence)EnsemblGeneIds (GRCh38): ENSG00000198677
EnsemblGeneIds (GRCh37): ENSG00000198677
OMIM: 614589, Gene2Phenotype
TTC37 is in 11 panels
2 reviews
Arina Puzriakova (Genomics England Curator)
Special Consideration: Old gene symbol used in pipeline.
Additional Information: Please include the latest HGNC symbol (SKIC3) on the report.Created: 26 Sep 2024, 4:19 p.m. | Last Modified: 26 Sep 2024, 4:19 p.m.
Panel Version: 0.469
Last Modified: 26 Sep 2024, 4:19 p.m.
Panel version: 0.469
Mafalda Gomes (Genomics England Curator)
Added new-gene-name tag, new approved HGNC gene symbol for TTC37 is SKIC3Created: 25 Oct 2023, 9:01 a.m. | Last Modified: 25 Oct 2023, 9:01 a.m.
Panel Version: 0.250
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
PMID: 29527791 - 65 casesCreated: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.135
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.250
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Trichohepatoenteric syndrome 1
- Tags
- new-gene-name special_consideration
- OMIM
- 614589
- Clinvar variants
- Variants in TTC37
- Penetrance
- None
- Panels with this gene
-
- Likely inborn error of metabolism
- Childhood onset dystonia, chorea or related movement disorder
- Intellectual disability
- COVID-19 research
- Undiagnosed metabolic disorders
- Intestinal failure or congenital diarrhoea
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Fetal anomalies
- DDG2P
- Gastrointestinal epithelial barrier disorders
- Infantile enterocolitis & monogenic inflammatory bowel disease
History Filter Activity
Added Tag
Arina Puzriakova (Genomics England Curator)Tag special_consideration tag was added to gene: TTC37.
Added Tag
Mafalda Gomes (Genomics England Curator)Tag new-gene-name tag was added to gene: TTC37.
Removed Tag, Removed Tag
Mafalda Gomes (Genomics England Curator)Tag different_gene_name was removed from gene: TTC37. Tag SKIC3 was removed from gene: TTC37.
Set Phenotypes
Mafalda Gomes (Genomics England Curator)Added phenotypes Trichohepatoenteric syndrome 1 for gene: TTC37
Added New Source, Set Phenotypes, Status Update
Mafalda Gomes (Genomics England Curator)Source Expert Review Green was added to TTC37. Added phenotypes Trichohepatoenteric syndrome 1 for gene: TTC37 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Added New Source, Set Phenotypes, Status Update
Mafalda Gomes (Genomics England Curator)Source Expert Review Amber was added to TTC37. Added phenotypes Trichohepatoenteric syndrome 1 for gene: TTC37 Rating Changed from No List (delete) to Amber List (moderate evidence)
Added New Source, Status Update
Mafalda Gomes (Genomics England Curator)Source Expert Review Removed was added to TTC37. Rating Changed from Amber List (moderate evidence) to No List (delete)
Added Tag, Added Tag
Mafalda Gomes (Genomics England Curator)Tag different_gene_name tag was added to gene: TTC37. Tag SKIC3 tag was added to gene: TTC37.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Mafalda Gomes (Genomics England Curator)gene: TTC37 was added gene: TTC37 was added to Newborns main panel. Sources: Expert Review Amber Mode of inheritance for gene: TTC37 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TTC37 were set to Trichohepatoenteric syndrome 1