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: ATP5D Green List (high evidence)
ATP5D (ATP synthase, H+ transporting, mitochondrial F1 complex, delta subunit)
EnsemblGeneIds (GRCh38): ENSG00000099624
EnsemblGeneIds (GRCh37): ENSG00000099624
OMIM: 603150, Gene2Phenotype
ATP5D is in 6 panels
EnsemblGeneIds (GRCh38): ENSG00000099624
EnsemblGeneIds (GRCh37): ENSG00000099624
OMIM: 603150, Gene2Phenotype
ATP5D is in 6 panels
1 review
Sarah Leigh (Genomics England Curator)
Comment on list classification: This gene was added as Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter (May 2019) on behalf of GMS mitochondrial specialist test group: 2 unrelated children and functional studies.
From panels: Possible mitochondrial disorder - nuclear genes (Version 0.187) and Mitochondrial disorder with complex V deficiency (Version 0.25).Created: 21 May 2019, 4:11 p.m.
ATP5D has a new gene name: ATP5F1DCreated: 21 May 2019, 4:08 p.m.
Created: 21 May 2019, 4:08 p.m.
Panel version: 1.296
Panel version: 1.296
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Mitochondrial complex V (ATP synthase) deficiency, 618120
- Tags
- new-gene-name
- OMIM
- 603150
- Clinvar variants
- Variants in ATP5D
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
21 May 2019, Gel status: 3
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: atp5d has been classified as Green List (High Evidence).
21 May 2019, Gel status: 4
Added Tag
Sarah Leigh (Genomics England Curator)Tag new-gene-name tag was added to gene: ATP5D.
21 May 2019, Gel status: 4
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: ATP5D were changed from to Mitochondrial complex V (ATP synthase) deficiency, 618120
21 May 2019, Gel status: 4
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: ATP5D were set to
21 May 2019, Gel status: 4
Set mode of inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for gene: ATP5D was changed from to BIALLELIC, autosomal or pseudoautosomal
21 May 2019, Gel status: 4
Created, Added New Source, Set mode of inheritance
Sarah Leigh (Genomics England Curator)gene: ATP5D was added gene: ATP5D was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: ATP5D was set to