Genes in panel
- AARS2 2
- ABAT 4
- ABCB7 3
- ACAD9 2
- ACO2 5
- AFG3L2 4
- AGK 3
- AIFM1 2
- APOPT1 3
- APTX 3
- ATAD3A 3
- ATP5A1 7
- ATP5D 1
- ATP5E 4
- ATP5G3 5
- ATP5O 5
- ATPAF2 3
- BCS1L 2
- BOLA3 3
- C12orf65 3
- C19orf70 1
- C1QBP 2
- C2orf69 4
- CA5A 1
- CARS2 4
- CHCHD10 2
- CLPB 4
- CLPP 2
- COA6 3
- COA7 1
- COQ2 3
- COQ4 2
- COQ6 2
- COQ7 3
- COQ8A 3
- COQ8B 2
- COQ9 3
- COX10 2
- COX11 3
- COX15 2
- COX20 3
- COX5A 3
- COX6A1 2
- COX6A2 4
- COX6B1 1
- COX7B 2
- CRLS1 2
- CYC1 2
- CYCS 5
- DARS2 3
- DGUOK 2
- DLAT 3
- DLD 3
- DNA2 3
- DNAJC19 2
- DNM1L 3
- DNM2 4
- EARS2 2
- ECHS1 3
- ELAC2 2
- ETFDH 2
- ETHE1 2
- FARS2 3
- FASTKD2 2
- FBXL4 4
- FDX2 6
- FDXR 2
- FH 2
- FLAD1 3
- FOXRED1 1
- GARS 3
- GDAP1 2
- GFER 2
- GFM1 2
- GFM2 3
- GLRX5 3
- GTPBP3 2
- HADHB 3
- HARS2 3
- HCCS 2
- HIBCH 3
- HLCS 2
- HPDL 2
- HSD17B10 2
- HSPD1 2
- HTRA2 1
- IARS2 3
- IBA57 2
- IDH3A 2
- ISCA1 1
- ISCA2 4
- ISCU 3
- KARS 5
- KIAA0391 3
- LARS2 2
- LETM1 3
- LIAS 3
- LIG3 3
- LIPT1 3
- LIPT2 4
- LONP1 2
- LRPPRC 3
- LYRM4 4
- LYRM7 4
- MARS2 5
- MDH2 1
- MECR 2
- MFF 1
- MFN2 3
- MGME1 3
- MICU1 2
- MIPEP 1
- MPC1 3
- MPV17 2
- MRM2 2
- MRPL3 4
- MRPL39 3
- MRPL44 3
- MRPS2 2
- MRPS22 2
- MRPS34 2
- MSTO1 2
- MT-ATP6 3
- MT-ATP8 6
- MT-CO1 3
- MT-CO2 3
- MT-CO3 3
- MT-CYB 3
- MTFMT 5
- MT-ND1 3
- MT-ND2 3
- MT-ND3 3
- MT-ND4 3
- MT-ND4L 3
- MT-ND5 3
- MT-ND6 3
- MTO1 2
- MTPAP 3
- MT-RNR1 3
- 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
- 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
- NADK2 3
- NARS2 2
- NAXD 5
- NAXE 2
- NDUFA1 2
- NDUFA10 1
- NDUFA11 1
- NDUFA12 5
- NDUFA13 6
- NDUFA2 1
- NDUFA4 4
- NDUFA6 3
- NDUFA8 6
- NDUFA9 4
- NDUFAF1 1
- NDUFAF2 2
- NDUFAF3 1
- NDUFAF4 1
- NDUFAF5 2
- NDUFAF6 2
- NDUFAF8 1
- NDUFB10 5
- NDUFB11 2
- NDUFB3 2
- NDUFB8 2
- NDUFC2 3
- NDUFS1 1
- NDUFS2 1
- NDUFS3 1
- NDUFS4 1
- NDUFS6 1
- NDUFS7 1
- NDUFS8 1
- NDUFV1 1
- NDUFV2 2
- NFS1 5
- NFU1 3
- NSUN3 4
- NUBPL 2
- OPA1 4
- OPA3 2
- OXCT1 3
- PANK2 4
- PARS2 4
- PC 3
- PDHA1 3
- PDHB 3
- PDHX 3
- PDP1 3
- PDSS1 2
- PDSS2 2
- PET100 4
- PITRM1 5
- PLA2G6 2
- PMPCA 2
- PMPCB 1
- PNPLA8 3
- PNPT1 2
- POLG 3
- POLG2 3
- POLRMT 4
- PPA2 1
- PPOX 5
- PTCD3 1
- PUS1 3
- QARS 6
- QRSL1 3
- RARS2 3
- RMND1 3
- RNASEH1 3
- RRM2B 2
- RTN4IP1 2
- SACS 2
- SARS2 2
- SCO1 2
- SCO2 2
- SDHA 4
- SDHAF1 2
- SDHB 6
- SDHD 3
- SERAC1 3
- SFXN4 3
- SLC13A3 3
- SLC19A2 3
- SLC19A3 3
- SLC22A5 2
- SLC25A1 3
- SLC25A12 3
- SLC25A19 3
- SLC25A20 2
- SLC25A24 2
- SLC25A26 2
- SLC25A3 2
- SLC25A32 1
- SLC25A36 3
- SLC25A38 2
- SLC25A4 2
- SLC25A42 3
- SLC25A46 2
- SLC52A2 2
- SLC52A3 2
- SPATA5 5
- SPG7 7
- SSBP1 3
- SUCLA2 2
- SUCLG1 2
- SURF1 3
- TACO1 2
- TAMM41 3
- TARS2 5
- TAZ 3
- TEFM 3
- TFAM 3
- TIMM50 3
- TIMM8A 2
- TIMMDC1 3
- TK2 2
- TMEM126B 4
- TMEM70 1
- TOP3A 2
- TPK1 3
- TRIT1 3
- TRMT10C 3
- TRMT5 4
- TRMU 3
- TRNT1 2
- TSFM 2
- TTC19 1
- TUFM 4
- TWNK 4
- TYMP 2
- UQCC2 4
- UQCRB 4
- UQCRC2 5
- UQCRFS1 4
- VARS2 2
- WARS2 3
- YARS2 2
- ANO10 5
- ATP5B 5
- BTD 4
- CMPK2 3
- COASY 2
- COX14 6
- COX16 4
- COX18 4
- COX4I1 3
- CRAT 3
- DCC 1
- ETFA 2
- ETFB 2
- GUK1 3
- HSPA9 3
- IDH1 2
- IDH3B 2
- MRPL49 1
- MRPS14 1
- MRPS16 3
- MT-RNR2 3
- NDUFB7 4
- NDUFB9 2
- OGDH 3
- OXA1L 4
- PCK2 2
- PDE12 3
- PTPMT1 1
- SLC25A21 1
- SQOR 3
- SUPV3L1 1
- TIMM22 1
- TMEM65 1
- TOMM7 3
- TOMM70 1
- UQCC3 2
- UQCRC1 2
- UQCRQ 2
- XPNPEP3 5
- YME1L1 1
- ABCB6 1
- ACADM 1
- ACADS 1
- ACADSB 1
- ACADVL 1
- ACAT1 1
- ACAT2 2
- ACSL4 2
- AK2 1
- ALAS2 1
- ALDH18A1 1
- ALDH1B1 2
- APOO 1
- ATAD3B 2
- ATP5C1 3
- ATP5F1 4
- ATP5G1 3
- ATP5G2 3
- ATP5H 4
- ATP5I 3
- ATP5J 3
- ATP5J2 4
- ATP5L 4
- ATP5L2 4
- ATPAF1 3
- BDH1 1
- BOLA1 1
- BOLA2 1
- C19orf12 6
- CEP89 2
- CHKB 6
- CISD2 1
- CLPX 1
- COA1 2
- COA3 5
- COA4 3
- COA5 4
- COQ5 3
- COX17 3
- COX19 3
- COX4I2 3
- COX5B 1
- COX6B2 3
- COX6C 1
- COX7A1 1
- COX7A2 1
- COX7B2 1
- COX7C 1
- COX8A 2
- CPT1A 1
- CPT2 1
- CTBP1 1
- CYP24A1 1
- D2HGDH 1
- DARS 7
- DHTKD1 6
- DIABLO 1
- DIAPH1 1
- DLST 1
- DTD1 0
- DYM 2
- ECSIT 2
- ERAL1 3
- ERCC6L2 0
- FA2H 1
- FBP2 1
- FGF12 1
- FXN 7
- G6PC 4
- GATB 5
- GATC 4
- GATM 3
- GLUD1 5
- GUF1 1
- HADH 1
- HADHA 1
- HMGCL 4
- HMGCS2 1
- HSPE1 1
- HTT 2
- IARS 2
- IER3IP1 5
- KIF5A 1
- L2HGDH 1
- LACTB 1
- LARS 2
- MICU2 1
- MIEF2 2
- MRPL12 3
- MRPL40 2
- MRPS23 5
- MRPS25 2
- MRPS28 2
- MRPS7 1
- NDUFA3 2
- NDUFA5 1
- NDUFA7 1
- NDUFAB1 1
- NDUFAF7 3
- NDUFB1 1
- NDUFB2 1
- NDUFB4 1
- NDUFB5 1
- NDUFB6 1
- NDUFC1 1
- NDUFS5 2
- NDUFV3 2
- NNT 1
- PAM16 1
- PDK1 1
- PDK2 1
- PDK3 4
- PDK4 1
- PDP2 3
- PDPR 3
- PET117 1
- PNPLA4 1
- POP1 1
- PTCD1 1
- PTRH2 1
- PYCR1 3
- ROBO3 4
- SAMHD1 3
- SDHAF2 3
- SDHAF3 3
- SDHAF4 3
- SDHC 1
- SECISBP2 1
- SEPSECS 1
- SLC13A5 2
- SLC25A10 1
- SLC25A13 1
- SLC25A22 3
- SLC25A40 1
- SLC33A1 1
- SLC39A8 2
- SLC44A1 1
- SRRT 2
- STAT2 7
- STXBP1 1
- SUCLG2 1
- TANGO2 5
- TIMM44 1
- TMEM126A 1
- TRAK1 1
- TRAP1 1
- TXN2 3
- UQCC1 3
- UQCR10 3
- UQCR11 3
- UQCRH 1
- USMG5 2
- VPS13C 5
- WFS1 1
- XRCC4 1
Mitochondrial disorders
Gene: USMG5 Red List (low evidence)
USMG5 (up-regulated during skeletal muscle growth 5 homolog (mouse))
EnsemblGeneIds (GRCh38): ENSG00000173915
EnsemblGeneIds (GRCh37): ENSG00000173915
OMIM: 615204, Gene2Phenotype
USMG5 is in 1 panel
EnsemblGeneIds (GRCh38): ENSG00000173915
EnsemblGeneIds (GRCh37): ENSG00000173915
OMIM: 615204, Gene2Phenotype
USMG5 is in 1 panel
2 reviews
Catherine Snow (Genomics England)
Added new-gene-name tag, new approved HGNC gene symbol for USMG5 is ATP5MKCreated: 23 Feb 2021, 4:20 p.m. | Last Modified: 23 Feb 2021, 4:20 p.m.
Panel Version: 2.19
Created: 23 Feb 2021, 4:20 p.m.
Last Modified: 23 Feb 2021, 4:20 p.m.
Panel version: 2.19
Last Modified: 23 Feb 2021, 4:20 p.m.
Panel version: 2.19
Sarah Leigh (Genomics England Curator)
I don't know
Homozygouse founder variant (NM_032747.3 c.87+1G>C) reported in three unrelated Ashkenazi Jewish families (allele freq 0.57% in Ashkenazi Jewish populations). Not associated with phenotype in OMIM or in Gen2Phen. Supportive functional studies are also reported (PMID 29917077). The GMS mitochondrial specialist test group should be consultated on this gene and the founder variants (comment from Anna de Burca, Genomics England Clinical Fellow).Created: 5 Aug 2019, 10:38 a.m. | Last Modified: 5 Aug 2019, 1:51 p.m.
Panel Version: 1.455
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Autosomal recessive Leigh syndrome
Publications
Created: 5 Aug 2019, 10:38 a.m.
Last Modified: 5 Aug 2019, 1:51 p.m.
Panel version: 1.485
Last Modified: 5 Aug 2019, 1:51 p.m.
Panel version: 1.485
Details
- Sources
-
- Expert list
- Phenotypes
-
- Autosomal recessive Leigh syndrome
- Tags
- new-gene-name founder-effect
- OMIM
- 615204
- Clinvar variants
- Variants in USMG5
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
23 Feb 2021, Gel status: 1
Added Tag
Catherine Snow (Genomics England)Tag new-gene-name tag was added to gene: USMG5.
22 Aug 2019, Gel status: 1
Added Tag
Sarah Leigh (Genomics England Curator)Tag founder-effect tag was added to gene: USMG5.
5 Aug 2019, Gel status: 1
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: USMG5 were changed from to Autosomal recessive Leigh syndrome
5 Aug 2019, Gel status: 1
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: USMG5 were set to
5 Aug 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance
Sarah Leigh (Genomics England Curator)gene: USMG5 was added gene: USMG5 was added to Mitochondrial disorders. Sources: Expert list Mode of inheritance for gene: USMG5 was set to