- Panels
- Mitochondrial disease
- MIPEP
Genes in panel
- AARS2 1
- ABAT 1
- ABCB7 1
- ACAD9 1
- ACADM 2
- ACADSB 2
- ACADVL 2
- ACAT1 2
- ACO2 2
- AFG3L2 2
- AGK 1
- AIFM1 1
- AMACR 1
- APOPT1 1
- APTX 2
- ATAD3A 2
- ATP5D 1
- ATP5E 3
- ATP5O 1
- BCS1L 3
- BOLA3 1
- C12orf65 1
- C19orf70 1
- C1QBP 1
- C2orf69 1
- CA5A 2
- CARS2 1
- CHCHD10 2
- CHCHD2 1
- CHKB 1
- CIAO1 1
- CISD2 2
- CLPB 1
- CLPP 1
- COA6 1
- COA7 2
- COASY 2
- COQ2 1
- COQ4 1
- COQ6 1
- COQ7 2
- COQ8A 1
- COQ8B 1
- COQ9 1
- COX10 1
- COX11 1
- COX15 1
- COX20 1
- COX6A1 1
- COX6A2 1
- COX6B1 1
- COX7B 1
- CPT1A 2
- CPT2 2
- CRLS1 2
- CYC1 1
- CYCS 2
- D2HGDH 2
- DAP3 1
- DARS2 1
- DGUOK 1
- DLAT 1
- DLD 1
- DNA2 1
- DNAJC19 1
- DNAJC30 2
- DNM1L 1
- DNM2 2
- EARS2 1
- ECHS1 1
- ELAC2 1
- ETFA 1
- ETFB 1
- ETFDH 1
- ETHE1 2
- FARS2 2
- FASTKD2 2
- FBXL4 1
- FDX2 2
- FDXR 1
- FH 1
- FLAD1 1
- FOXRED1 2
- FXN 2
- GARS 2
- GCSH 1
- GDAP1 2
- GFER 2
- GFM1 1
- GFM2 1
- GLRX5 1
- GPD1 0
- GTPBP3 2
- GUK1 2
- HADH 2
- HADHA 2
- HADHB 2
- HARS2 1
- HCCS 1
- HIBCH 1
- HLCS 2
- HMGCL 2
- HMGCS2 2
- HPDL 2
- HSD17B10 1
- HSPA9 0
- HSPD1 1
- HTRA2 1
- IARS2 1
- IBA57 1
- IDH2 2
- IDH3A 1
- ISCA1 1
- ISCA2 1
- ISCU 1
- KARS 1
- KIAA0391 2
- L2HGDH 0
- LARS2 1
- LETM1 2
- LIAS 1
- LIG3 2
- LIPT1 2
- LIPT2 1
- LONP1 2
- LRPPRC 2
- LYRM7 1
- MDH2 1
- MECR 1
- MFF 1
- MFN2 2
- MGME1 1
- MICU1 1
- MIPEP 1
- MORC2 3
- MPC1 1
- MPV17 1
- MRM2 1
- MRPL3 1
- MRPL39 2
- MRPL44 1
- MRPL49 1
- MRPS2 1
- MRPS22 2
- MRPS23 1
- MRPS34 2
- MSTO1 3
- MT-ATP6 1
- MT-ATP8 1
- MT-CO1 1
- MT-CO2 1
- MT-CO3 1
- MT-CYB 1
- MTFMT 1
- MT-ND1 1
- MT-ND2 1
- MT-ND3 1
- MT-ND4 1
- MT-ND4L 1
- MT-ND5 1
- MT-ND6 1
- MTO1 1
- MTPAP 2
- MT-RNR1 2
- MT-TA 1
- MT-TC 1
- MT-TD 1
- MT-TE 1
- MT-TF 1
- MT-TG 1
- MT-TH 1
- MT-TI 1
- MT-TK 1
- MT-TL1 1
- MT-TL2 1
- MT-TM 1
- MT-TN 1
- MT-TP 2
- MT-TQ 1
- MT-TR 1
- MT-TS1 1
- MT-TS2 1
- MT-TV 1
- MT-TW 1
- MT-TY 1
- NADK2 1
- NARS2 1
- NAXD 2
- NAXE 1
- NDUFA1 1
- NDUFA10 2
- NDUFA12 2
- NDUFA13 2
- NDUFA2 1
- NDUFA4 1
- NDUFA6 1
- NDUFA9 2
- NDUFAF1 2
- NDUFAF2 2
- NDUFAF3 1
- NDUFAF4 1
- NDUFAF5 1
- NDUFAF6 1
- NDUFAF8 1
- NDUFB10 2
- NDUFB11 2
- NDUFB3 2
- NDUFB8 1
- NDUFS1 1
- NDUFS2 1
- NDUFS3 1
- NDUFS4 2
- NDUFS6 1
- NDUFS7 1
- NDUFS8 1
- NDUFV1 1
- NDUFV2 3
- NFS1 2
- NFU1 1
- NUBPL 1
- OGDH 2
- OPA1 1
- OPA3 1
- OXCT1 2
- PAM16 0
- PANK2 1
- PARS2 1
- PC 2
- PDE12 1
- PDHA1 1
- PDHB 1
- PDHX 1
- PDK3 3
- PDP1 2
- PDSS1 1
- PDSS2 1
- PET100 1
- PINK1 2
- PITRM1 2
- PLA2G6 1
- PMPCA 1
- PMPCB 1
- PNPLA8 2
- PNPT1 3
- POLG 2
- POLG2 1
- POLRMT 1
- PPA2 1
- PPCS 2
- PPOX 2
- PRDX3 2
- PRKN 0
- PTCD3 2
- PTPMT1 1
- PTRH2 0
- PUS1 1
- QARS 1
- QRSL1 1
- RANBP2 1
- RARS2 2
- RMND1 1
- RMRP 0
- RNASEH1 1
- RNF213 1
- RRM2B 2
- RTN4IP1 1
- SACS 2
- SARS2 2
- SCO1 1
- SCO2 2
- SDHA 1
- SDHAF1 1
- SDHB 1
- SDHD 1
- SERAC1 1
- SFXN4 1
- SHMT2 1
- SLC19A2 1
- SLC19A3 1
- SLC22A5 2
- SLC25A1 1
- SLC25A12 1
- SLC25A19 1
- SLC25A20 2
- SLC25A24 3
- SLC25A26 1
- SLC25A3 1
- SLC25A32 1
- SLC25A36 1
- SLC25A38 1
- SLC25A4 1
- SLC25A42 1
- SLC25A46 1
- SLC52A2 2
- SLC52A3 2
- SPATA5 2
- SPG7 1
- SSBP1 2
- STAT2 1
- SUCLA2 1
- SUCLG1 1
- SURF1 2
- TACO1 1
- TAMM41 2
- TANGO2 1
- TARS2 2
- TAZ 1
- TEFM 1
- TFAM 2
- TIMM50 1
- TIMM8A 2
- TIMMDC1 3
- TK2 1
- TMEM126A 0
- TMEM126B 1
- TMEM70 1
- TOP3A 1
- TPK1 1
- TRAK1 1
- TRIT1 1
- TRMT10C 1
- TRMT5 1
- TRMU 1
- TRNT1 2
- TSFM 1
- TTC19 1
- TUFM 2
- TWNK 2
- TYMP 2
- UQCC2 1
- UQCRB 2
- UQCRC2 2
- UQCRFS1 1
- VARS2 1
- VCP 0
- VPS13C 1
- WARS2 1
- YARS2 1
- ACADS 2
- APOO 3
- ATP5A1 2
- ATP5B 1
- CEP89 1
- CMPK2 1
- COX14 1
- COX16 2
- COX4I1 2
- COX5A 2
- CRAT 1
- ERAL1 1
- EXOSC3 2
- IDH3B 1
- LYRM4 1
- MARS2 2
- MPC2 2
- MRPL50 1
- MRPS14 2
- MRPS16 1
- MRPS7 2
- NDUFA11 1
- NDUFA8 1
- NDUFB7 2
- NDUFB9 2
- NDUFC2 1
- NNT 3
- NSUN3 2
- OXA1L 2
- P4HTM 1
- RRM1 2
- SLC25A10 2
- SLC25A21 2
- SLC39A8 2
- SQOR 1
- TIMM22 2
- TMEM65 2
- TOMM7 2
- TOMM70 1
- TXN2 1
- UQCC3 1
- UQCRH 1
- UQCRQ 1
- USMG5 1
- YME1L1 2
- ATP5F1 1
- ATPAF2 2
- COA3 1
- COA5 1
- COQ5 2
- COX18 1
- COX4I2 2
- COX8A 1
- ERCC6L2 2
- GATB 1
- GATC 1
- GMPR 1
- KIF5A 2
- ME2 1
- MICU2 1
- MIEF1 2
- MIEF2 1
- MRPL12 1
- MRPL42 1
- MRPS25 1
- MRPS28 1
- MT-RNR2 1
- MT-TT 1
- NDUFAF7 2
- NME3 1
- PET117 2
- PNPLA4 1
- PTCD1 2
- PYROXD2 1
- SDHAF2 1
- SDHC 0
- SLIRP 1
- XPNPEP3 2
STRs in panel
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Regions in panel
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Mitochondrial disease
Gene: MIPEP Green List (high evidence)
MIPEP (mitochondrial intermediate peptidase)
EnsemblGeneIds (GRCh38): ENSG00000027001
EnsemblGeneIds (GRCh37): ENSG00000027001
OMIM: 602241, Gene2Phenotype
MIPEP is in 3 panels
EnsemblGeneIds (GRCh38): ENSG00000027001
EnsemblGeneIds (GRCh37): ENSG00000027001
OMIM: 602241, Gene2Phenotype
MIPEP is in 3 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Green List (high evidence)
Four unrelated children reported.
Sources: Expert listCreated: 5 Jan 2020, 6:59 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined oxidative phosphorylation deficiency 31, MIM# 617228
Publications
Created: 5 Jan 2020, 6:59 a.m.
Panel version: 0.33
Panel version: 0.33
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Combined oxidative phosphorylation deficiency 31, MIM# 617228
- OMIM
- 602241
- Clinvar variants
- Variants in MIPEP
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
5 Jan 2020, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mipep has been classified as Green List (High Evidence).
5 Jan 2020, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mipep has been classified as Green List (High Evidence).
5 Jan 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: MIPEP was added gene: MIPEP was added to Mitochondrial_AustralianGenomics_VCGS. Sources: Expert list Mode of inheritance for gene: MIPEP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MIPEP were set to 27799064 Phenotypes for gene: MIPEP were set to Combined oxidative phosphorylation deficiency 31, MIM# 617228 Review for gene: MIPEP was set to GREEN