- Panels
- Newborns main panel
- ACAD9
- 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: ACAD9 Green List (high evidence)EnsemblGeneIds (GRCh38): ENSG00000177646
EnsemblGeneIds (GRCh37): ENSG00000177646
OMIM: 611103, Gene2Phenotype
ACAD9 is in 14 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
https://search.clinicalgenome.org/kb/genes/HGNC:21497Created: 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
-
- Mitochondrial complex I deficiency, nuclear type 20
- OMIM
- 611103
- Clinvar variants
- Variants in ACAD9
- Penetrance
- None
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Fetal anomalies
- DDG2P
- Hyperammonaemia
- Mitochondrial disorder with complex I deficiency
- Acute rhabdomyolysis
- Childhood onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
- Paediatric or syndromic cardiomyopathy
- Mitochondrial liver disease, including transient infantile liver failure
- Likely inborn error of metabolism
- Rhabdomyolysis and metabolic muscle disorders
- Intellectual disability
- Possible mitochondrial disorder - nuclear genes
History Filter Activity
Added New Source, Status Update
Arina Puzriakova (Genomics England Curator)Source Expert Review Green was added to ACAD9. 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 ACAD9. Added phenotypes Mitochondrial complex I deficiency, nuclear type 20 for gene: ACAD9 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Added New Source, Set Phenotypes, Status Update
Mafalda Gomes (Genomics England Curator)Source Expert Review Green was added to ACAD9. Added phenotypes Mitochondrial complex I deficiency, nuclear type 20 for gene: ACAD9 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 ACAD9. Added phenotypes Mitochondrial complex I deficiency, nuclear type 20 for gene: ACAD9 Rating Changed from No List (delete) to Amber List (moderate evidence)
Created, Added New Source, Set mode of inheritance
Mafalda Gomes (Genomics England Curator)gene: ACAD9 was added gene: ACAD9 was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: ACAD9 was set to BIALLELIC, autosomal or pseudoautosomal