Genes in panel
- AARS2 3
- AASS 3
- ABAT 5
- ABCA1 1
- ABCB11 1
- ABCB4 1
- ABCB7 5
- ABCD1 2
- ABCD4 1
- ABCG5 1
- ABCG8 1
- ABHD12 1
- ABHD5 1
- ACACA 2
- ACAD8 1
- ACAD9 4
- ACADM 3
- ACADS 1
- ACADSB 1
- ACADVL 3
- ACAT1 1
- ACO2 5
- ACOX1 0
- ACSF3 3
- ACY1 1
- ADA 3
- ADAR 1
- ADSL 1
- AFG3L2 4
- AGA 1
- AGK 3
- AGL 1
- AGPS 0
- AGXT 0
- AHCY 2
- AIFM1 2
- AKR1D1 1
- ALAD 1
- ALAS2 1
- ALDH18A1 2
- ALDH3A2 1
- ALDH4A1 1
- ALDH5A1 1
- ALDH6A1 1
- ALDH7A1 2
- ALDOA 1
- ALDOB 0
- ALG1 0
- ALG11 0
- ALG12 0
- ALG14 1
- ALG3 0
- ALG6 0
- ALG8 0
- ALG9 0
- ALPL 1
- AMACR 0
- AMN 1
- AMT 1
- ANO10 3
- APOA1 1
- APOA5 2
- APOB 2
- APOC2 1
- APOE 1
- APOPT1 3
- APRT 1
- APTX 3
- ARG1 0
- ARSA 1
- ARSB 0
- ARSE 1
- ARSG 3
- ARSK 2
- ASAH1 1
- ASL 0
- ASPA 1
- ASS1 0
- ATAD3A 5
- ATIC 2
- ATP13A2 1
- ATP5A1 6
- ATP5D 1
- ATP5E 4
- ATP5G3 5
- ATP5O 4
- ATP6AP1 0
- ATP6V0A2 0
- ATP7A 3
- ATP7B 1
- ATP8B1 1
- ATPAF2 2
- AUH 0
- B3GALNT2 0
- B3GALT6 0
- B3GAT3 0
- B3GLCT 1
- B4GALNT1 2
- B4GALT1 0
- B4GALT7 0
- BAAT 1
- BCAT2 3
- BCKDHA 0
- BCKDHB 0
- BCKDK 1
- BCS1L 2
- BOLA3 3
- BTD 2
- C12orf65 3
- C19orf12 7
- C19orf70 2
- C1QBP 2
- CA5A 2
- CARS2 4
- CAT 0
- CBS 2
- CCDC115 1
- CHCHD10 3
- CHKB 6
- CHST14 0
- CHST3 0
- CHST6 0
- CHSY1 0
- CISD2 1
- CLDN16 1
- CLDN19 1
- CLN3 1
- CLN5 1
- CLN6 1
- CLN8 1
- CLPB 5
- CLPP 2
- CNNM2 1
- COA6 3
- COA7 1
- COG1 0
- COG4 0
- COG5 0
- COG6 0
- COG7 0
- COG8 0
- COQ2 3
- COQ4 2
- COQ6 2
- COQ7 3
- COQ8A 4
- COQ8B 3
- COQ9 2
- COX10 2
- COX14 3
- COX15 2
- COX20 3
- COX5A 3
- COX6A1 2
- COX6B1 1
- COX7B 2
- CP 1
- CPOX 3
- CPS1 0
- CPT1A 1
- CPT2 4
- CREB3L3 4
- CRLS1 2
- CSGALNACT1 3
- CTH 1
- CTNS 1
- CTSA 1
- CTSC 1
- CTSD 1
- CTSF 1
- CTSK 1
- CUBN 1
- CYC1 2
- CYP27A1 1
- CYP7B1 1
- D2HGDH 1
- DARS 7
- DARS2 3
- DBH 2
- DBT 0
- DCXR 2
- DDC 2
- DDOST 2
- DGUOK 2
- DHCR24 1
- DHCR7 2
- DHFR 0
- DHODH 1
- DHRSX 7
- DHTKD1 7
- DLAT 3
- DLD 3
- DNA2 3
- DNAJC12 1
- DNAJC19 3
- DNAJC5 1
- DNM1L 3
- DNM2 3
- DOLK 0
- DPAGT1 0
- DPM1 0
- DPM2 2
- DPM3 2
- DPYD 2
- DPYS 1
- DYM 2
- EARS2 2
- EBP 1
- ECHS1 3
- EDEM3 1
- EHBP1L1 2
- ELAC2 2
- ENO3 2
- EOGT 2
- EPG5 1
- EPM2A 1
- ETFA 2
- ETFB 2
- ETFDH 3
- ETHE1 2
- EXT1 1
- EXT2 0
- FA2H 1
- FAH 1
- FARS2 3
- FASTKD2 2
- FBP1 0
- FBXL4 4
- FDX2 6
- FDXR 2
- FECH 3
- FGFR2 1
- FH 2
- FKRP 0
- FKTN 0
- FLAD1 3
- FMO3 1
- FOLR1 0
- FOXRED1 1
- FTCD 2
- FUCA1 1
- FUK 3
- FUT8 1
- FXN 7
- G6PC 2
- G6PC3 1
- GAA 2
- GABRG2 1
- GALC 1
- GALE 1
- GALK1 1
- GALM 2
- GALNS 0
- GALNT2 3
- GALNT3 0
- GALT 1
- GAMT 2
- GARS 3
- GATM 3
- GBA 1
- GBE1 1
- GCDH 1
- GCH1 1
- GCLC 1
- GCSH 4
- GDAP1 4
- GFER 2
- GFM1 2
- GFM2 3
- GFPT1 0
- GIF 2
- GK 1
- GLA 0
- GLB1 0
- GLDC 1
- GLRA1 1
- GLRX5 3
- GLS 4
- GLUD1 5
- GLUL 1
- GLYCTK 1
- GM2A 1
- GMPPA 2
- GMPPB 0
- GNE 2
- GNMT 1
- GNPAT 0
- GNPTAB 0
- GNPTG 0
- GNS 0
- GORAB 2
- GPD1 1
- GPHN 1
- GPIHBP1 1
- GRHPR 0
- GRN 3
- GSS 1
- GSTZ1 2
- GTPBP3 3
- GUSB 0
- GYG1 2
- GYS1 2
- GYS2 0
- HAAO 1
- HADH 1
- HADHA 2
- HADHB 2
- HAMP 1
- HARS2 5
- HCCS 2
- HCFC1 1
- HEXA 1
- HEXB 1
- HFE 1
- HFE2 2
- HGD 1
- HGSNAT 0
- HIBCH 3
- HLCS 2
- HMBS 3
- HMGCL 4
- HMGCS2 1
- HOGA1 0
- HPD 1
- HPRT1 1
- HPS1 1
- HS2ST1 2
- HSD17B10 2
- HSD17B4 0
- HSD3B7 2
- HSPA9 5
- HSPD1 2
- HTRA2 1
- HYAL1 2
- IARS2 3
- IBA57 2
- IDH2 2
- IDS 0
- IDUA 0
- IER3IP1 6
- ISCA1 1
- ISCA2 5
- ISCU 4
- ISPD 1
- ITPA 1
- IVD 0
- KARS 5
- KYNU 2
- L2HGDH 1
- LAMP2 2
- LARGE1 2
- LARS 3
- LARS2 2
- LBR 1
- LCAT 1
- LCT 1
- LDHA 1
- LDLR 1
- LDLRAP1 1
- LETM1 4
- LFNG 3
- LIAS 3
- LIPA 1
- LIPT1 3
- LIPT2 4
- LMBRD1 1
- LMF1 1
- LONP1 2
- LPIN1 2
- LPL 1
- LRPPRC 3
- LYRM4 4
- LYRM7 3
- MAGT1 1
- MAN1B1 0
- MAN2B1 1
- MANBA 1
- MAOA 1
- MARS2 2
- MAT1A 2
- MCCC1 1
- MCCC2 1
- MCEE 0
- MCOLN1 0
- MDH2 1
- MECR 2
- MFF 2
- MFN2 3
- MFSD8 1
- MGAT2 0
- MGME1 3
- MICU1 2
- MIPEP 1
- MLYCD 0
- MMAA 0
- MMAB 0
- MMACHC 1
- MMADHC 1
- MOCS1 1
- MOCS2 1
- MOGS 1
- MPC1 3
- MPDU1 0
- MPI 0
- MPV17 2
- MRM2 2
- MRPL3 5
- MRPL44 3
- MRPS2 2
- MRPS22 2
- MRPS34 2
- MSMO1 1
- MSTO1 3
- MT-ATP6 3
- MT-ATP8 3
- MT-CO1 3
- MT-CO2 3
- MT-CO3 3
- MT-CYB 3
- MTFMT 4
- MTHFR 0
- MT-ND1 3
- MT-ND2 3
- MT-ND3 3
- MT-ND4 3
- MT-ND4L 3
- MT-ND5 3
- MT-ND6 3
- MTO1 2
- MTPAP 5
- MTR 1
- MT-RNR1 3
- MTRR 1
- MT-TA 3
- MT-TC 3
- MT-TD 3
- MT-TE 3
- MT-TF 3
- MT-TG 3
- MT-TH 3
- MT-TI 3
- MT-TK 3
- MT-TL1 3
- MT-TL2 3
- MT-TM 3
- MT-TN 3
- MTTP 1
- MT-TP 3
- MT-TQ 3
- MT-TR 3
- MT-TS1 3
- MT-TS2 3
- MT-TT 5
- MT-TV 3
- MT-TW 3
- MT-TY 3
- MUT 1
- MVK 1
- NADK2 3
- NAGA 1
- NAGLU 0
- NAGS 0
- NARS2 2
- NAXD 3
- NAXE 2
- NDUFA1 2
- NDUFA10 1
- NDUFA11 1
- NDUFA12 4
- NDUFA13 6
- NDUFA2 1
- NDUFA4 4
- NDUFA6 3
- NDUFA8 5
- NDUFA9 5
- NDUFAF1 1
- NDUFAF2 2
- NDUFAF3 1
- NDUFAF4 1
- NDUFAF5 2
- NDUFAF6 3
- NDUFAF8 1
- NDUFB10 4
- NDUFB11 2
- NDUFB3 2
- NDUFB8 2
- NDUFC2 2
- NDUFS1 1
- NDUFS2 1
- NDUFS3 1
- NDUFS4 1
- NDUFS6 1
- NDUFS7 1
- NDUFS8 1
- NDUFV1 1
- NDUFV2 2
- NEU1 0
- NFS1 6
- NFU1 3
- NGLY1 2
- NHLRC1 1
- NNT 2
- NPC1 1
- NPC2 1
- NSDHL 1
- NSUN3 3
- NT5C3A 1
- NT5E 2
- NUBPL 2
- NUS1 4
- OAT 0
- OCRL 2
- OGDH 5
- OPA1 4
- OPA3 2
- OTC 1
- OXCT1 1
- PAH 1
- PANK2 2
- PARS2 4
- PC 3
- PCBD1 1
- PCCA 0
- PCCB 0
- PCK1 2
- PCSK9 1
- PDHA1 3
- PDHB 3
- PDHX 3
- PDK3 6
- PDP1 3
- PDSS1 2
- PDSS2 2
- PEPD 1
- PET100 4
- PEX1 0
- PEX10 0
- PEX11B 0
- PEX12 0
- PEX13 0
- PEX14 0
- PEX16 0
- PEX19 0
- PEX2 0
- PEX26 0
- PEX3 0
- PEX5 1
- PEX6 2
- PEX7 0
- PFKM 2
- PGAM2 2
- PGAP2 0
- PGAP3 0
- PGK1 2
- PGM1 1
- PGM3 0
- PHGDH 1
- PHKA1 2
- PHKA2 0
- PHKB 1
- PHKG2 0
- PHYH 0
- PIGA 0
- PIGL 0
- PIGM 4
- PIGN 0
- PIGO 0
- PIGS 2
- PIGT 1
- PIGV 0
- PIGW 1
- PINK1 1
- PLA2G6 1
- PMM2 0
- PMPCA 2
- PMPCB 1
- PNP 1
- PNPLA2 3
- PNPLA8 3
- PNPO 1
- PNPT1 2
- POLG 4
- POLG2 4
- POMGNT1 0
- POMGNT2 0
- POMK 2
- POMT1 0
- POMT2 0
- POR 1
- PPA2 1
- PPOX 3
- PPT1 1
- PRKAG2 2
- PRODH 2
- PRPS1 1
- PSAP 0
- PSAT1 1
- PTCD3 2
- PTS 2
- PUS1 4
- PYCR1 3
- PYGL 0
- PYGM 1
- QDPR 1
- QRSL1 3
- RARS2 3
- RBCK1 2
- RBP4 2
- RFT1 0
- RMND1 3
- RNASEH1 3
- RNASEH2A 4
- RNASEH2B 4
- RNASEH2C 4
- RPIA 2
- RPL10 1
- RRM2B 3
- RTN4IP1 2
- SACS 2
- SAMHD1 3
- SAR1B 2
- SARS2 2
- SC5D 2
- SCO1 2
- SCO2 2
- SCP2 0
- SDHA 4
- SDHAF1 2
- SDHB 3
- SDHD 3
- SEC23B 2
- SERAC1 3
- SETX 2
- SFXN4 3
- SGSH 0
- SHMT2 2
- SI 2
- SKIV2L 2
- SLC12A3 2
- SLC13A3 3
- SLC16A1 1
- SLC17A5 1
- SLC18A2 2
- SLC19A2 3
- SLC19A3 3
- SLC22A5 2
- SLC25A1 4
- SLC25A12 4
- SLC25A13 1
- SLC25A15 0
- SLC25A19 3
- SLC25A20 1
- SLC25A22 3
- SLC25A26 2
- SLC25A3 3
- SLC25A32 1
- SLC25A38 2
- SLC25A4 3
- SLC25A42 3
- SLC25A46 2
- SLC2A1 2
- SLC2A2 0
- SLC30A10 1
- SLC35A1 2
- SLC35A2 3
- SLC35C1 0
- SLC35D1 0
- SLC37A4 2
- SLC39A14 1
- SLC39A4 2
- SLC39A8 2
- SLC3A1 2
- SLC40A1 1
- SLC46A1 0
- SLC52A2 2
- SLC52A3 1
- SLC5A1 2
- SLC5A6 2
- SLC6A19 3
- SLC6A3 2
- SLC6A8 2
- SLC7A7 0
- SLC7A9 2
- SMPD1 1
- SPG7 7
- SPR 2
- SPTLC1 3
- SPTLC2 2
- SRD5A3 0
- SSBP1 3
- SSR4 0
- ST3GAL3 2
- ST3GAL5 0
- STS 2
- STT3A 3
- SUCLA2 3
- SUCLG1 2
- SUMF1 1
- SUOX 1
- SURF1 3
- TACO1 2
- TALDO1 1
- TANGO2 5
- TARS2 3
- TAT 2
- TAZ 3
- TCN2 2
- TFAM 3
- TFR2 1
- TH 2
- TIMM50 2
- TIMM8A 2
- TIMMDC1 3
- TK2 3
- TMEM126B 4
- TMEM165 0
- TMEM199 2
- TMEM5 1
- TMEM70 1
- TOP3A 2
- TPK1 3
- TPP1 1
- TRAP1 2
- TREX1 2
- TRIM37 0
- TRIT1 3
- TRMT10C 3
- TRMT5 4
- TRMU 3
- TRNT1 2
- TRPM6 1
- TSFM 3
- TTC19 1
- TTC37 3
- TTPA 2
- TUFM 6
- TUSC3 0
- TWNK 5
- TYMP 3
- UGT1A1 3
- UMOD 2
- UMPS 1
- UPB1 3
- UQCC2 5
- UQCRB 5
- UQCRC2 6
- UQCRFS1 3
- UROD 1
- UROS 2
- VARS2 2
- VIPAS39 2
- VKORC1 2
- VPS16 1
- VPS33A 1
- VPS33B 2
- WARS2 3
- WDR45 1
- WFS1 3
- XDH 1
- XPNPEP3 4
- XYLT1 1
- XYLT2 0
- YARS2 2
- ACOX2 1
- ALG13 1
- ALG2 2
- ATP5B 4
- C2orf69 4
- CD320 2
- CLCN7 1
- CMPK2 3
- COA3 3
- COASY 1
- COG3 2
- COX11 4
- COX18 4
- COX4I1 3
- COX4I2 3
- COX6A2 4
- CSTB 1
- CYCS 5
- DCC 1
- DHDDS 1
- EHHADH 2
- ERAL1 1
- GATC 2
- GUK1 3
- HPDL 3
- HSD11B2 1
- IDH1 2
- IDH3A 3
- KIAA0391 3
- LDHD 2
- LIG3 4
- LIPC 2
- MAN2B2 3
- MRPL39 3
- MRPL49 2
- MRPS14 1
- MRPS16 5
- MRPS7 2
- MT-RNR2 3
- NDUFB7 3
- NDUFB9 4
- OPLAH 2
- PAICS 1
- PDE12 3
- PET117 1
- PITRM1 5
- POLRMT 4
- PSPH 2
- QARS 5
- RANBP2 2
- RNASET2 2
- RYR1 1
- SDHAF2 4
- SDHC 3
- SLC25A24 3
- SLC25A36 3
- SLC31A1 1
- SPATA5 5
- SQOR 3
- SSR3 2
- STAT2 7
- SUPV3L1 2
- TAMM41 3
- TEFM 3
- TKFC 1
- TMEM65 1
- TOMM7 3
- TRAPPC11 1
- TRPM7 1
- UGGT1 2
- UQCC3 3
- UQCRC1 2
- UQCRQ 2
- UROC1 2
- YME1L1 1
- ABCG2 1
- ACAT2 2
- ALDH1B1 2
- ALG10 2
- AMPD1 2
- AOX1 1
- ATAD3B 2
- ATP5C1 3
- ATP5G1 3
- ATP5G2 3
- ATP5I 3
- ATP5J 3
- ATXN7 2
- BCAT1 1
- BOLA1 1
- BOLA2 1
- C1GALT1C1 1
- CAD 0
- CAMLG 1
- CEP89 3
- CETP 1
- CLCN6 1
- CLPS 1
- CNDP1 1
- COA1 2
- COA5 4
- COG2 0
- COX5B 1
- COX6C 1
- COX7A1 1
- COX7A2 1
- COX7B2 1
- COX7C 1
- COX8A 3
- CYP7A1 1
- DHFR2 1
- DLST 3
- DMGDH 1
- DPEP1 1
- DTD1 0
- ECSIT 2
- EGF 1
- ERCC6L2 0
- FAR1 2
- FBP2 1
- FOLR2 1
- FOLR3 1
- FXYD2 1
- GALNT12 1
- GATB 2
- GGT1 2
- HAL 1
- HYKK 1
- IDH3B 2
- KCTD7 1
- KHK 1
- LACTB 1
- LIPI 1
- MRPL12 4
- MRPL40 2
- MRPS23 4
- MTHFD1 1
- NAT8L 1
- NDUFA3 2
- NDUFA5 1
- NDUFA7 1
- NDUFAB1 1
- NDUFB1 1
- NDUFB2 1
- NDUFB4 1
- NDUFB5 1
- NDUFB6 1
- NDUFC1 1
- NDUFS5 2
- NDUFV3 2
- NT5C 1
- NUP62 1
- OSTC 2
- OXA1L 2
- PCYT2 1
- PDK1 3
- PDK2 2
- PDK4 2
- PDP2 4
- PDPR 5
- PDXK 1
- PEX11A 1
- PHKG1 1
- PHYKPL 1
- PNLIP 1
- PNPLA4 1
- POP1 1
- PPM1B 1
- PPM1K 1
- PREPL 2
- PTCD1 1
- PTPRZ1 1
- ROBO3 4
- SARDH 1
- SCARB1 1
- SHPK 1
- SLC22A4 1
- SLC25A2 1
- SLC25A40 1
- SLC26A6 1
- SLC27A5 1
- SLC35A3 0
- SLC36A2 2
- SLC52A1 1
- SLC6A20 2
- SLCO1B1 1
- SLCO1B3 1
- SRRT 2
- STT3B 0
- SUCLG2 2
- SUGCT 1
- TCN1 2
- TDO2 1
- TIMM44 1
- TM6SF2 1
- TMEM126A 3
- TPMT 1
- TREH 1
- TXN2 4
- UQCRH 1
- USF1 1
- VPS13C 5
Likely inborn error of metabolism
Gene: CHSY1 Green List (high evidence)
CHSY1 (chondroitin sulfate synthase 1)
EnsemblGeneIds (GRCh38): ENSG00000131873
EnsemblGeneIds (GRCh37): ENSG00000131873
OMIM: 608183, Gene2Phenotype
CHSY1 is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000131873
EnsemblGeneIds (GRCh37): ENSG00000131873
OMIM: 608183, Gene2Phenotype
CHSY1 is in 11 panels
0 reviews
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- London North GLH
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Temtamy preaxial brachydactyly syndrome 605282
- CHSY1-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
- OMIM
- 608183
- Clinvar variants
- Variants in CHSY1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
13 Feb 2019, Gel status: 4
Added New Source, Added New Source
Ivone Leong (Genomics England Curator)Source NHS GMS was added to CHSY1. Source London North GLH was added to CHSY1.
8 Jan 2019, Gel status: 4
Panel promoted to version 1.0
Ellen McDonagh (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1.
16 Dec 2018, Gel status: 4
Set Phenotypes, Set publications
Ellen McDonagh (Genomics England Curator)Added phenotypes Temtamy preaxial brachydactyly syndrome 605282; CHSY1-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) for gene: CHSY1 Publications for gene CHSY1 were changed from 27604308 to 24269551; 21129727
16 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: CHSY1 was added gene: CHSY1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: CHSY1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CHSY1 were set to 27604308 Phenotypes for gene: CHSY1 were set to Temtamy preaxial brachydactyly syndrome 605282; CHSY1-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)