Genes in panel
- AARS2 0
- AASS 0
- ABCA1 1
- ABCB11 0
- ABCB4 0
- ABCB7 1
- ABCD1 0
- ABCD4 0
- ABHD5 0
- ACAD8 0
- ACAD9 0
- ACADM 1
- ACADS 0
- ACADSB 0
- ACADVL 0
- ACAT1 0
- ACO2 0
- ACOX1 0
- ACSF3 0
- ADAR 0
- AFG3L2 0
- AGA 0
- AGK 0
- AGL 0
- AGPS 0
- AGXT 0
- AIFM1 0
- AKR1D1 0
- ALAD 0
- ALDH18A1 0
- ALDH4A1 0
- ALDH5A1 0
- ALDH6A1 0
- ALDH7A1 0
- ALDOA 0
- ALDOB 0
- ALG1 0
- ALG11 0
- ALG12 0
- ALG3 0
- ALG6 0
- ALG8 0
- ALG9 0
- AMACR 0
- AMN 0
- AMT 0
- ANO10 0
- APOA1 0
- APOA5 0
- APOC2 0
- APOE 0
- APOPT1 0
- APRT 0
- APTX 0
- ARG1 0
- ARSA 0
- ARSB 0
- ARSE 0
- ASAH1 0
- ASL 0
- ASPA 0
- ASS1 0
- ATAD3A 0
- ATIC 0
- ATP13A2 0
- ATP6AP1 1
- ATP6V0A2 0
- ATP7A 0
- ATP7B 0
- ATP8B1 0
- ATPAF2 0
- AUH 0
- B3GALNT2 0
- B3GALT6 0
- B3GAT3 0
- B3GLCT 0
- B4GALT1 0
- B4GALT7 0
- BAAT 0
- BCKDHA 0
- BCKDHB 0
- BCKDK 0
- BCS1L 0
- BOLA3 0
- BTD 0
- C12orf65 0
- C19orf12 0
- CA5A 0
- CAT 0
- CBS 0
- CCDC115 0
- CHCHD10 0
- CHKB 0
- CHST14 0
- CHST3 0
- CHST6 0
- CHSY1 0
- CLN3 0
- CLN5 0
- CLN6 0
- CLN8 0
- CLPB 0
- CLPP 0
- CNNM2 0
- COG1 0
- COG4 0
- COG5 0
- COG6 0
- COG7 0
- COG8 0
- COQ2 0
- COQ4 0
- COQ6 0
- COQ8A 0
- COQ8B 0
- COQ9 0
- COX10 0
- COX14 0
- COX15 0
- COX20 0
- COX6A1 0
- COX6B1 0
- COX7B 0
- CP 0
- CPOX 0
- CPS1 0
- CPT1A 0
- CPT2 0
- CTH 0
- CTNS 0
- CTSA 0
- CTSD 0
- CTSK 0
- CUBN 0
- CYC1 0
- CYP27A1 0
- D2HGDH 0
- DARS 0
- DARS2 0
- DBH 0
- DBT 0
- DDC 0
- DGUOK 0
- DHCR7 0
- DHFR 0
- DHTKD1 0
- DLAT 0
- DLD 0
- DNA2 0
- DNAJC12 0
- DNAJC19 0
- DNAJC5 0
- DNM1L 0
- DOLK 0
- DPAGT1 0
- DPM1 0
- DPM2 0
- DPM3 0
- DPYD 0
- DPYS 0
- DYM 0
- EARS2 0
- EBP 0
- ECHS1 0
- ELAC2 0
- ENO3 0
- EPG5 0
- EPM2A 0
- ETFA 0
- ETFB 0
- ETFDH 0
- ETHE1 0
- EXT1 0
- EXT2 0
- FA2H 0
- FAH 0
- FAR1 0
- FARS2 0
- FASTKD2 0
- FBP1 0
- FBXL4 0
- FGFR2 0
- FH 0
- FKRP 0
- FKTN 0
- FMO3 0
- FOLR1 0
- FOXRED1 0
- FTCD 0
- FUCA1 0
- FUT8 0
- FXN 0
- G6PC 0
- G6PC3 0
- GAA 0
- GABRG2 0
- GALC 0
- GALE 0
- GALK1 0
- GALNS 0
- GALNT3 0
- GALT 0
- GAMT 0
- GARS 0
- GATM 0
- GBA 0
- GBE1 0
- GCDH 0
- GCH1 0
- GCLC 0
- GDAP1 0
- GFER 0
- GFM1 0
- GFPT1 0
- GIF 0
- GK 0
- GLA 0
- GLB1 0
- GLDC 0
- GLRA1 0
- GLRX5 0
- GLUD1 0
- GLUL 0
- GLYCTK 0
- GM2A 0
- GMPPB 0
- GNE 0
- GNMT 0
- GNPAT 0
- GNPTAB 0
- GNPTG 0
- GNS 0
- GPD1 0
- GPHN 0
- GRHPR 0
- GSS 0
- GTPBP3 0
- GUSB 0
- GYG1 0
- GYS1 0
- GYS2 0
- HAAO 0
- HADH 0
- HADHA 0
- HADHB 0
- HAMP 0
- HCCS 0
- HCFC1 0
- HEXA 0
- HEXB 0
- HFE 0
- HFE2 0
- HGD 0
- HGSNAT 0
- HIBCH 0
- HLCS 0
- HMBS 0
- HMGCL 0
- HMGCS2 0
- HOGA1 0
- HPD 0
- HPRT1 0
- HPS1 0
- HSD17B10 0
- HSD17B4 0
- HSD3B7 0
- HSPD1 0
- HTRA2 0
- HYAL1 0
- IARS2 0
- IBA57 0
- IDH2 0
- IDS 0
- IDUA 0
- ISCU 0
- ISPD 0
- ITPA 0
- IVD 0
- KARS 0
- KYNU 0
- L2HGDH 0
- LAMP2 0
- LARGE1 0
- LARS2 0
- LBR 0
- LCAT 0
- LCT 0
- LDHA 0
- LDLR 0
- LDLRAP1 0
- LIAS 0
- LIPA 0
- LIPT1 0
- LMBRD1 0
- LONP1 0
- LPIN1 0
- LPL 0
- LRPPRC 0
- MAGT1 0
- MAN1B1 0
- MAN2B1 0
- MANBA 0
- MAOA 0
- MARS2 0
- MAT1A 0
- MCCC1 0
- MCCC2 0
- MCEE 0
- MCOLN1 0
- MFF 0
- MFN2 0
- MFSD8 0
- MGAT2 0
- MGME1 0
- MLYCD 0
- MMAA 0
- MMAB 0
- MMACHC 0
- MMADHC 0
- MOCS1 0
- MOCS2 0
- MOGS 0
- MPDU1 0
- MPI 0
- MPV17 0
- MRPL3 0
- MRPS22 0
- MSMO1 0
- MT-ATP6 0
- MT-ATP8 0
- MT-CO1 0
- MT-CO2 0
- MT-CO3 0
- MT-CYB 0
- MTFMT 0
- MTHFR 0
- MT-ND1 0
- MT-ND2 0
- MT-ND3 0
- MT-ND4 0
- MT-ND4L 0
- MT-ND5 0
- MT-ND6 0
- MTO1 0
- MTPAP 0
- MTR 0
- MT-RNR1 0
- MTRR 0
- MT-TA 0
- MT-TC 0
- MT-TD 0
- MT-TE 0
- MT-TF 0
- MT-TG 0
- MT-TH 0
- MT-TI 0
- MT-TK 0
- MT-TL1 0
- MT-TL2 0
- MT-TM 0
- MT-TN 0
- MTTP 0
- MT-TP 0
- MT-TQ 0
- MT-TR 0
- MT-TS1 0
- MT-TS2 0
- MT-TV 0
- MT-TW 0
- MT-TY 0
- MUT 0
- MVK 0
- NAGA 0
- NAGLU 0
- NAGS 0
- NARS2 0
- NDUFA1 0
- NDUFA10 0
- NDUFA11 0
- NDUFA2 0
- NDUFAF1 0
- NDUFAF2 0
- NDUFAF3 0
- NDUFAF4 0
- NDUFAF5 0
- NDUFAF6 0
- NDUFB11 0
- NDUFB3 0
- NDUFS1 0
- NDUFS2 0
- NDUFS3 0
- NDUFS4 0
- NDUFS6 0
- NDUFS7 0
- NDUFS8 0
- NDUFV1 0
- NDUFV2 0
- NEU1 0
- NFU1 0
- NGLY1 0
- NHLRC1 0
- NPC1 0
- NPC2 0
- NSDHL 0
- NT5C3A 0
- NUBPL 0
- OAT 0
- OCRL 0
- OPA1 0
- OPA3 0
- OTC 0
- OXCT1 0
- PAH 0
- PANK2 0
- PC 0
- PCBD1 0
- PCCA 0
- PCCB 0
- PCK1 0
- PCSK9 0
- PDHA1 0
- PDHB 0
- PDHX 0
- PDP1 0
- PDSS1 0
- PDSS2 0
- PEPD 0
- PET100 0
- PEX1 0
- PEX10 0
- PEX11B 0
- PEX12 0
- PEX13 0
- PEX14 0
- PEX16 0
- PEX19 0
- PEX2 0
- PEX26 0
- PEX3 0
- PEX5 0
- PEX6 0
- PEX7 0
- PFKM 0
- PGAM2 0
- PGAP2 0
- PGAP3 0
- PGK1 0
- PGM1 0
- PGM3 0
- PHGDH 0
- PHKA1 0
- PHKA2 0
- PHKB 0
- PHKG2 0
- PHYH 0
- PIGA 0
- PIGL 0
- PIGN 0
- PIGO 0
- PIGT 0
- PIGV 0
- PINK1 0
- PLA2G6 0
- PMM2 0
- PMPCA 0
- PNP 0
- PNPO 0
- PNPT1 0
- POLG 0
- POLG2 0
- POMGNT1 0
- POMGNT2 0
- POMT1 0
- POMT2 0
- PPA2 0
- PPOX 0
- PPT1 0
- PRKAG2 0
- PRODH 0
- PSAP 0
- PUS1 0
- PYCR1 0
- PYGL 0
- PYGM 0
- QDPR 0
- RARS2 0
- RBCK1 0
- RFT1 0
- RMND1 0
- RNASEH1 0
- RPIA 0
- RPL10 0
- RRM2B 0
- SACS 0
- SAMHD1 0
- SAR1B 0
- SARS2 0
- SCO1 0
- SCO2 0
- SCP2 0
- SDHA 0
- SDHAF1 0
- SDHB 0
- SDHD 0
- SEC23B 0
- SERAC1 0
- SGSH 0
- SI 0
- SLC16A1 0
- SLC17A5 0
- SLC19A2 0
- SLC19A3 0
- SLC22A5 0
- SLC25A1 0
- SLC25A13 0
- SLC25A15 0
- SLC25A19 0
- SLC25A20 0
- SLC25A22 0
- SLC25A26 0
- SLC25A3 0
- SLC25A38 0
- SLC25A4 0
- SLC25A46 0
- SLC2A2 0
- SLC30A10 0
- SLC35A1 0
- SLC35C1 0
- SLC35D1 0
- SLC37A4 0
- SLC39A14 0
- SLC39A4 0
- SLC39A8 0
- SLC40A1 0
- SLC46A1 0
- SLC52A2 0
- SLC52A3 0
- SLC5A1 0
- SLC6A19 0
- SLC6A20 0
- SLC7A7 0
- SMPD1 0
- SPG7 0
- SRD5A3 0
- SSR4 0
- ST3GAL5 0
- SUCLA2 0
- SUCLG1 0
- SUMF1 0
- SUOX 0
- SURF1 0
- TACO1 0
- TALDO1 0
- TANGO2 0
- TAZ 0
- TFR2 0
- TIMM8A 0
- TK2 0
- TMEM165 0
- TMEM5 0
- TMEM70 0
- TPK1 0
- TPP1 0
- TRIM37 0
- TRMU 0
- TRNT1 0
- TRPM6 0
- TSFM 0
- TTC19 0
- TUSC3 0
- TWNK 0
- TYMP 0
- UGT1A1 0
- UMPS 0
- UROD 0
- UROS 0
- VARS2 0
- WDR45 0
- XDH 0
- XYLT1 0
- XYLT2 0
- YARS2 0
- ABCG5 0
- ABCG8 0
- ABHD12 0
- ACY1 0
- ADA 0
- ADSL 0
- ALAS2 0
- ALDH3A2 0
- ALG13 0
- ALPL 0
- APOB 0
- CISD2 0
- CLDN16 0
- CLDN19 0
- CSTB 0
- CTSC 0
- CYP7B1 0
- DCXR 0
- DHCR24 0
- DHDDS 0
- DHODH 0
- FECH 0
- IER3IP1 0
- LIPC 0
- NDUFB9 0
- OPLAH 0
- PIGM 0
- POR 0
- PRPS1 0
- PSAT1 0
- PSPH 0
- PTS 0
- RANBP2 0
- RBP4 0
- RNASEH2A 0
- RNASEH2B 0
- RNASEH2C 0
- RNASET2 0
- RYR1 0
- SC5D 0
- SDHAF2 0
- SDHC 0
- SETX 0
- SKIV2L 0
- SLC12A3 0
- SLC18A2 0
- SLC25A12 0
- SLC2A1 0
- SLC35A2 0
- SLC3A1 0
- SLC6A3 0
- SLC6A8 0
- SLC7A9 0
- SPR 0
- SPTLC1 0
- SPTLC2 0
- ST3GAL3 0
- STAT2 0
- STS 0
- TAT 0
- TCN2 0
- TH 0
- TREX1 0
- TTC37 0
- TTPA 0
- TUFM 0
- UMOD 0
- UQCRQ 0
- UROC1 0
- VIPAS39 0
- VKORC1 0
- VPS33B 0
- WFS1 0
- ABAT 1
- ABCG2 0
- AHCY 0
- ALG14 0
- ALG2 0
- AMPD1 0
- AOX1 0
- ARSG 0
- ATP5A1 0
- ATP5E 0
- ATXN7 0
- BCAT1 0
- BCAT2 0
- C1GALT1C1 0
- CD320 0
- CETP 0
- CLPS 0
- CNDP1 0
- COA5 0
- COX4I2 0
- CYP7A1 0
- DHFR2 0
- DLST 0
- DMGDH 0
- DPEP1 0
- EGF 0
- FOLR2 0
- FOLR3 0
- FXYD2 0
- GALNT12 0
- GCSH 0
- GGT1 0
- GLS 0
- HAL 0
- HARS2 0
- HYKK 0
- KHK 0
- LFNG 0
- LIPI 0
- MRPS16 0
- MTHFD1 0
- NAT8L 0
- NDUFA12 0
- NDUFA9 0
- NT5C 0
- NUP62 0
- OGDH 0
- PDK1 0
- PDK2 0
- PDK3 0
- PDK4 0
- PDP2 0
- PDPR 0
- PDXK 0
- PEX11A 0
- PHKG1 0
- PHYKPL 0
- PITRM1 0
- PNLIP 0
- PPM1B 0
- PPM1K 0
- PREPL 0
- PTPRZ1 0
- SCARB1 0
- SHPK 0
- SLC22A4 0
- SLC25A2 0
- SLC27A5 0
- SLC36A2 0
- SLC52A1 0
- SLCO1B1 0
- SLCO1B3 0
- SUCLG2 0
- SUGCT 0
- TCN1 0
- TDO2 0
- TM6SF2 0
- TMEM126A 0
- TPMT 0
- TREH 0
- UPB1 0
- UQCRB 0
- USF1 0
- KCNQ1 1
Regions in panel
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This Panel is marked as Deleted
TEST Undiagnosed metabolic disorders
Gene: MMACHC Green List (high evidence)
MMACHC (methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria)
EnsemblGeneIds (GRCh38): ENSG00000132763
EnsemblGeneIds (GRCh37): ENSG00000132763
OMIM: 609831, Gene2Phenotype
MMACHC is in 18 panels
EnsemblGeneIds (GRCh38): ENSG00000132763
EnsemblGeneIds (GRCh37): ENSG00000132763
OMIM: 609831, Gene2Phenotype
MMACHC is in 18 panels
0 reviews
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Emory Genetics Laboratory
- Literature
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- OMIM
- 609831
- Clinvar variants
- Variants in MMACHC
- Penetrance
- None
- Publications
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
- Hyperammonaemia
- Ataxia and cerebellar anomalies - narrow panel
- Hydrocephalus
- Retinal disorders
- Paediatric or syndromic cardiomyopathy
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Intellectual disability
- Atypical haemolytic uraemic syndrome
- Hereditary neuropathy or pain disorder
- Early onset or syndromic epilepsy
- Hereditary ataxia
- Fetal anomalies
- DDG2P
- Hereditary neuropathy
History Filter Activity
20 Aug 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications
Sarah Leigh (Genomics England Curator)gene: MMACHC was added gene: MMACHC was added to TEST Undiagnosed metabolic disorders. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert Review Green,Literature,Emory Genetics Laboratory Mode of inheritance for gene: MMACHC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MMACHC were set to 27604308