- Panels
- Mitochondrial disorders
- SLC33A1
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
- BTD 5
- C12orf65 3
- C19orf70 1
- C1QBP 2
- C2orf69 4
- CA5A 1
- CARS2 4
- CHCHD10 2
- CLPB 4
- CLPP 2
- CMPK2 4
- COA6 3
- COA7 1
- COQ2 3
- COQ4 2
- COQ6 2
- COQ7 3
- COQ8A 3
- COQ8B 2
- COQ9 3
- COX10 2
- COX11 3
- COX15 2
- COX18 5
- COX20 3
- COX4I1 4
- 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
- GUK1 4
- HADHB 3
- HARS2 3
- HCCS 2
- HIBCH 3
- HLCS 2
- HPDL 2
- HSD17B10 2
- HSPA9 4
- 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
- MRPL49 2
- 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
- NDUFB7 5
- 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
- PDE12 4
- 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
- SQOR 4
- SSBP1 3
- SUCLA2 2
- SUCLG1 2
- SUPV3L1 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
- TOMM7 4
- 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
- COASY 2
- COQ5 4
- COX14 6
- COX16 4
- CRAT 3
- DCC 1
- ETFA 2
- ETFB 2
- IDH1 3
- IDH3B 2
- MRPS14 1
- MRPS16 3
- MT-RNR2 3
- NDUFB9 2
- OGDH 3
- OXA1L 4
- PCK2 2
- PTPMT1 1
- SLC25A21 1
- TIMM22 1
- TMEM65 1
- 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
- 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: SLC33A1 Red List (low evidence)
SLC33A1 (solute carrier family 33 member 1)
EnsemblGeneIds (GRCh38): ENSG00000169359
EnsemblGeneIds (GRCh37): ENSG00000169359
OMIM: 603690, Gene2Phenotype
SLC33A1 is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000169359
EnsemblGeneIds (GRCh37): ENSG00000169359
OMIM: 603690, Gene2Phenotype
SLC33A1 is in 11 panels
1 review
Sarah Leigh (Genomics England Curator)
Red List (low evidence)
Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene for congenital cataracts, hearing loss, and neurodegeneration 614482. At least 6 variants reported in at least 5 unrelated cases of congenital cataracts, hearing loss, and neurodegeneration 614482.Created: 5 Aug 2019, 10:38 a.m. | Last Modified: 5 Aug 2019, 10:38 a.m.
Panel Version: 1.423
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Congenital cataracts, hearing loss, and neurodegeneration 614482; Spastic paraplegia 42, autosomal dominant 612539 AD
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
- Sources
-
- Expert list
- Phenotypes
-
- Congenital cataracts, hearing loss, and neurodegeneration 614482
- Spastic paraplegia 42, autosomal dominant 612539
- OMIM
- 603690
- Clinvar variants
- Variants in SLC33A1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Monogenic hearing loss
- Intellectual disability
- Bilateral congenital or childhood onset cataracts
- Hereditary spastic paraplegia
- Adult onset neurodegenerative disorder
- Fetal anomalies
- DDG2P
- Structural eye disease
- Adult onset hereditary spastic paraplegia
- Childhood onset hereditary spastic paraplegia
- Mitochondrial disorders
History Filter Activity
5 Aug 2019, Gel status: 1
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: SLC33A1 were changed from to Congenital cataracts, hearing loss, and neurodegeneration 614482; Spastic paraplegia 42, autosomal dominant 612539
5 Aug 2019, Gel status: 1
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: SLC33A1 were set to
5 Aug 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance
Sarah Leigh (Genomics England Curator)gene: SLC33A1 was added gene: SLC33A1 was added to Mitochondrial disorders. Sources: Expert list Mode of inheritance for gene: SLC33A1 was set to