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: AK2 Red List (low evidence)
AK2 (adenylate kinase 2)
EnsemblGeneIds (GRCh38): ENSG00000004455
EnsemblGeneIds (GRCh37): ENSG00000004455
OMIM: 103020, Gene2Phenotype
AK2 is in 7 panels
EnsemblGeneIds (GRCh38): ENSG00000004455
EnsemblGeneIds (GRCh37): ENSG00000004455
OMIM: 103020, Gene2Phenotype
AK2 is in 7 panels
1 review
Sarah Leigh (Genomics England Curator)
Red List (low evidence)
Reticular dysgenesis 267500 can be classified as a mitochondriopathy according to PMID 19043417. Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 13 variants reported.
However, the phenotype (reticular dysgenesis) is not likely to suggest a non-specific mitochondrial disorder
(comments from Anna de Burca, Genomics England Clinical Fellow).Created: 5 Aug 2019, 10:38 a.m. | Last Modified: 5 Aug 2019, 10:52 a.m.
Panel Version: 1.424
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Reticular dysgenesis 267500
Publications
Created: 5 Aug 2019, 10:38 a.m.
Last Modified: 5 Aug 2019, 10:52 a.m.
Panel version: 1.423
Last Modified: 5 Aug 2019, 10:52 a.m.
Panel version: 1.423
Details
- Sources
-
- Expert list
- Phenotypes
-
- Reticular dysgenesis 267500
- OMIM
- 103020
- Clinvar variants
- Variants in AK2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
5 Aug 2019, Gel status: 1
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: AK2 were changed from to Reticular dysgenesis 267500
5 Aug 2019, Gel status: 1
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: AK2 were set to
5 Aug 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance
Sarah Leigh (Genomics England Curator)gene: AK2 was added gene: AK2 was added to Mitochondrial disorders. Sources: Expert list Mode of inheritance for gene: AK2 was set to