Genes in panel
- AAAS 2
- AARS 8
- ABCA1 4
- ABCD1 2
- ABHD12 4
- ACOX1 3
- ADA2 2
- ADCY6 2
- ADGRG6 2
- ADPRHL2 3
- AGTPBP1 4
- AGXT 4
- AIFM1 8
- AMACR 2
- AP1S1 3
- AP5Z1 2
- APOA1 4
- APTX 8
- ARHGAP19 2
- ARL6IP1 3
- ARSA 3
- ASAH1 2
- ATAD3A 2
- ATL1 7
- ATL3 8
- ATM 8
- ATP13A2 2
- ATP1A1 3
- ATP7A 8
- B4GALNT1 4
- BAG3 8
- BCKDHB 4
- BICD2 7
- BSCL2 8
- C12orf65 9
- C1orf194 4
- CADM3 4
- CAPN1 2
- CD59 3
- CHCHD10 6
- CLP1 2
- CNTNAP1 4
- COA7 3
- COQ7 2
- COX18 2
- COX20 3
- COX6A1 8
- CPOX 7
- CTDP1 7
- CYP27A1 2
- CYP2U1 2
- DARS2 3
- DCTN1 8
- DHH 6
- DHTKD1 8
- DHX9 2
- DMXL2 2
- DNAJB2 7
- DNAJC3 4
- DNM2 8
- DNMT1 6
- DRP2 8
- DST 6
- DYNC1H1 8
- EGR2 8
- ELP1 7
- EMILIN1 5
- ERCC6 3
- ERCC8 3
- ETFDH 3
- EXOSC3 3
- FA2H 4
- FAH 3
- FAM126A 4
- FBLN5 5
- FDXR 3
- FGD4 8
- FICD 2
- FIG4 10
- FLVCR1 3
- FXN 10
- GALC 4
- GAN 10
- GARS 8
- GBA2 4
- GBF1 4
- GDAP1 8
- GJB1 8
- GLA 7
- GNB4 8
- GSN 3
- HADHA 8
- HADHB 7
- HARS 6
- HEXA 3
- HEXB 4
- HINT1 6
- HK1 6
- HMBS 5
- HPDL 3
- HSPB1 8
- HSPB8 8
- IARS2 4
- IGHMBP2 8
- INF2 6
- ITPR3 3
- KIF1A 7
- KIF5A 6
- LITAF 8
- LMNA 8
- LRSAM1 7
- LYST 4
- MAG 6
- MCM3AP 4
- MFN2 8
- MMACHC 4
- MME 9
- MORC2 5
- MPV17 5
- MPZ 8
- MT-ATP6 5
- MTMR2 8
- MTTP 7
- MYH14 7
- NAGA 4
- NARS 3
- NDC1 3
- NDRG1 8
- NDUFS6 3
- NEFH 3
- NEFL 8
- NEMF 2
- NFASC 3
- NGF 7
- NTRK1 9
- NUDT2 5
- OPA1 4
- OPA3 4
- PDHA1 8
- PDK3 10
- PDXK 1
- PDYN 4
- PEX10 4
- PEX7 8
- PHYH 8
- PIEZO2 3
- PIGB 3
- PIGG 2
- PLA2G16 2
- PLA2G6 3
- PLEKHG5 7
- PLP1 8
- PMM2 4
- PMP2 3
- PMP22 8
- PNKP 4
- PNPLA6 7
- PNPT1 4
- POLG 8
- POLR3A 4
- POLR3B 3
- PPOX 6
- PRDM12 5
- PRNP 7
- PRPS1 9
- PRX 8
- PTRH2 4
- RAB7A 8
- RCC1 4
- REEP1 8
- RETREG1 8
- RTN2 1
- SACS 9
- SAMD9L 3
- SARS 3
- SBF1 8
- SBF2 8
- SCARB2 4
- SCN10A 2
- SCN11A 6
- SCN9A 7
- SCO2 3
- SEPT9 7
- SETX 8
- SH3TC2 10
- SIGMAR1 5
- SLC12A6 11
- SLC25A19 4
- SLC25A46 4
- SLC52A2 7
- SLC52A3 4
- SLC5A6 3
- SLC5A7 7
- SMN1 7
- SORD 4
- SOX10 7
- SPAST 9
- SPG11 5
- SPG7 10
- SPTAN1 3
- SPTBN4 3
- SPTLC1 8
- SPTLC2 8
- SURF1 5
- SYT2 10
- TBCE 3
- TDP1 11
- TECPR2 3
- TFG 8
- TRIM2 7
- TRMT5 3
- TRPV4 8
- TTC19 2
- TTPA 6
- TTR 6
- TUBB3 7
- TWNK 8
- TYMP 8
- UBA1 3
- UCHL1 2
- VAPB 3
- VCP 8
- VPS13D 3
- VRK1 2
- VWA1 2
- WARS 3
- WNK1 7
- XK 5
- XPA 4
- YARS 9
- ZFYVE26 7
- AFG3L2 2
- ALDH18A1 2
- AMPD2 2
- ARHGEF10 10
- CHRNA3 2
- DEGS1 2
- DGUOK 2
- DSTYK 3
- FBXO38 7
- GJC2 2
- JAG1 2
- KCNA2 2
- KIF21A 2
- LRP12 3
- MAPK8IP3 3
- MFF 2
- MT-RNR1 2
- MT-TL1 2
- PRKCG 5
- PSMC3 1
- PTEN 2
- PTPN11 5
- SCYL1 2
- SOD1 1
- SUCLA2 2
- TRPA1 2
- UQCRC1 2
- VPS13A 2
- XPNPEP3 2
- XRCC1 2
- ABCC9 5
- ACTC1 5
- ACTN2 5
- ALDH3A2 5
- ANKRD1 5
- BRAF 5
- C19orf12 2
- CACNB4 5
- CASQ2 5
- CAV3 5
- CCT5 7
- CLTCL1 4
- COQ8A 5
- CRYAB 5
- CSRP3 5
- DCAF8 4
- DES 5
- DLD 2
- DMD 5
- DSC2 5
- DSG2 5
- DSP 5
- DTNA 5
- EMD 5
- ERBB3 2
- FGF14 5
- FKTN 5
- GAA 7
- GATAD1 5
- GLE1 2
- HOXD10 6
- HRAS 5
- HSPB3 7
- ITPR1 5
- JPH2 5
- JUP 5
- KARS 7
- KCNA1 5
- KCNC3 5
- KIF1B 7
- KLC2 2
- KRAS 5
- L1CAM 5
- LAMA4 5
- LAMP2 5
- LAS1L 4
- LDB3 5
- MAP2K1 5
- MAP2K2 5
- MARS 7
- MED25 7
- MRE11 5
- MT-ND6 2
- MYBPC3 5
- MYH6 5
- MYH7 5
- MYL2 5
- MYL3 5
- MYO9B 1
- MYOZ2 5
- MYPN 5
- NAGLU 4
- NEBL 5
- NEXN 5
- NIPA1 6
- NOP56 2
- NOTCH2NL 3
- NRAS 5
- PCYT2 2
- PDLIM3 5
- PKP2 5
- PLN 5
- PRKAG2 5
- RAF1 5
- RBM20 5
- RFC1 6
- RIT1 5
- RYR2 5
- SCN5A 5
- SCP2 2
- SELENOI 2
- SGCD 5
- SIL1 5
- SLC13A3 2
- SLC1A3 5
- SLC52A1 5
- SOS1 5
- SPART 5
- SPG21 5
- SPTBN2 5
- TAZ 6
- TCAP 5
- TMEM43 5
- TNNC1 5
- TNNI3 5
- TNNT2 6
- TPM1 5
- TTBK2 5
- TTN 5
- UBA5 1
- VCL 5
- WASHC5 5
- ZFYVE27 5
- APOPT1 1
- C1orf94 2
- FAT3 1
- MT-TV 1
- PLAA 2
STRs in panel
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Hereditary neuropathy or pain disorder
Gene: FAT3 No list
FAT3 (FAT atypical cadherin 3)
EnsemblGeneIds (GRCh38): ENSG00000165323
EnsemblGeneIds (GRCh37): ENSG00000165323
OMIM: 612483, Gene2Phenotype
FAT3 is in 1 panel
EnsemblGeneIds (GRCh38): ENSG00000165323
EnsemblGeneIds (GRCh37): ENSG00000165323
OMIM: 612483, Gene2Phenotype
FAT3 is in 1 panel
1 review
Alexander Rossor (UCL Institute of Neurology)
Green List (high evidence)
3 unrelated individuals
Sources: Expert listCreated: 11 Apr 2026, 2:51 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
axonal sensory and motor peripheral neuropathy; cranial neuropathy; scoliosis; respiratory failure; pseudoobstruction
Publications
- PMID: 41937739
Created: 11 Apr 2026, 2:51 p.m.
Panel version: 7.45
Panel version: 7.45
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Phenotypes
-
- axonal sensory and motor peripheral neuropathy
- cranial neuropathy
- scoliosis
- respiratory failure
- pseudoobstruction
- OMIM
- 612483
- Clinvar variants
- Variants in FAT3
- Penetrance
- None
- Publications
-
- PMID: 41937739
- Panels with this gene
History Filter Activity
11 Apr 2026, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Alexander Rossor (UCL Institute of Neurology)gene: FAT3 was added gene: FAT3 was added to Hereditary neuropathy or pain disorder. Sources: Expert list Mode of inheritance for gene: FAT3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FAT3 were set to PMID: 41937739 Phenotypes for gene: FAT3 were set to axonal sensory and motor peripheral neuropathy; cranial neuropathy; scoliosis; respiratory failure; pseudoobstruction Review for gene: FAT3 was set to GREEN