- Panels
- Mitochondrial disorders
- SLC44A1
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: SLC44A1 Red List (low evidence)
SLC44A1 (solute carrier family 44 member 1)
EnsemblGeneIds (GRCh38): ENSG00000070214
EnsemblGeneIds (GRCh37): ENSG00000070214
OMIM: 606105, Gene2Phenotype
SLC44A1 is in 3 panels
EnsemblGeneIds (GRCh38): ENSG00000070214
EnsemblGeneIds (GRCh37): ENSG00000070214
OMIM: 606105, Gene2Phenotype
SLC44A1 is in 3 panels
1 review
Sarah Leigh (Genomics England Curator)
Red List (low evidence)
Not associated with phenotype in OMIM or in Gen2Phen. A homozygous variant (NM_080546.3 c.377_380del p.Ser126Metfs*8) has been reported in a child of first cousins from Turkey, who were each heterozygous (PMID 28097321)Created: 5 Aug 2019, 10:38 a.m. | Last Modified: 5 Aug 2019, 10:38 a.m.
Panel Version: 1.423
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
mild ID, macrocephaly, acanthosis nigricans, accessory mamilla, muscular hypotonia, frontotemporal cerebral atrophy
Publications
Created: 5 Aug 2019, 10:38 a.m.
Last Modified: 5 Aug 2019, 10:38 a.m.
Panel version: 1.423
Last Modified: 5 Aug 2019, 10:38 a.m.
Panel version: 1.423
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert list
- Phenotypes
-
- mild ID, macrocephaly, acanthosis nigricans, accessory mamilla, muscular hypotonia, frontotemporal cerebral atrophy
- OMIM
- 606105
- Clinvar variants
- Variants in SLC44A1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
11 Feb 2021, Gel status: 1
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: SLC44A1 was changed from to BIALLELIC, autosomal or pseudoautosomal
5 Aug 2019, Gel status: 1
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: SLC44A1 were changed from mild ID, macrocephaly, acanthosis nigricans, accessory mamilla, muscular hypotonia, frontotemporal cerebral atrophy to mild ID, macrocephaly, acanthosis nigricans, accessory mamilla, muscular hypotonia, frontotemporal cerebral atrophy
5 Aug 2019, Gel status: 1
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: SLC44A1 were changed from to mild ID, macrocephaly, acanthosis nigricans, accessory mamilla, muscular hypotonia, frontotemporal cerebral atrophy
5 Aug 2019, Gel status: 1
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: SLC44A1 were set to
5 Aug 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance
Sarah Leigh (Genomics England Curator)gene: SLC44A1 was added gene: SLC44A1 was added to Mitochondrial disorders. Sources: Expert list Mode of inheritance for gene: SLC44A1 was set to