Inherited Neuropathy Consortium
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 1381
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| AARS1 | 3 | Jul 12, 2019 |
| AIFM1 | 1 | Jul 10, 2019 |
| ARF1 | 2 | Jul 10, 2019 |
| ARHGEF10 | 2 | Jul 10, 2019 |
| ATL1 | 2 | Jul 10, 2019 |
| ATL3 | 1 | Jul 12, 2019 |
| ATP7A | 2 | Jul 10, 2019 |
| BICD2 | 7 | Jul 10, 2019 |
| BSCL2 | 2 | Jul 12, 2019 |
| CTDP1 | 1 | Jul 10, 2019 |
| DCTN1 | 6 | Jul 12, 2019 |
| DNAJB2 | 3 | Jul 10, 2019 |
| DNM2 | 8 | Jul 12, 2019 |
| DNMT1 | 4 | Jul 10, 2019 |
| DST | 3 | Jul 12, 2019 |
| DYNC1H1 | 15 | Jul 12, 2019 |
| EGR2 | 11 | Jul 10, 2019 |
| ELP1 | 3 | Jul 10, 2019 |
| FBXO38 | 1 | Jul 12, 2019 |
| FGD4 | 14 | Jul 10, 2019 |
| FIG4 | 15 | Jul 10, 2019 |
| GAN | 54 | Jul 10, 2019 |
| GARS1 | 23 | Jul 12, 2019 |
| GDAP1 | 58 | Jul 12, 2019 |
| GJB1 | 354 | Jul 12, 2019 |
| HADHB | 1 | Jul 10, 2019 |
| HINT1 | 4 | Jul 10, 2019 |
| HNRNPUL2-BSCL2 | 2 | Jul 12, 2019 |
| HSPB1 | 18 | Jul 12, 2019 |
| HSPB8 | 2 | Jul 10, 2019 |
| IFRD1 | 1 | Jul 10, 2019 |
| IGHMBP2 | 87 | Jul 12, 2019 |
| INF2 | 17 | Jul 12, 2019 |
| KARS1 | 2 | Jul 10, 2019 |
| LITAF | 11 | Jul 12, 2019 |
| LMNA | 7 | Jul 10, 2019 |
| LOC105369149 | 1 | Jul 10, 2019 |
| LOC126806039 | 2 | Jul 10, 2019 |
| LOC126861245 | 3 | Jul 10, 2019 |
| LOC129390683 | 1 | Jul 10, 2019 |
| LOC129929426 | 1 | Jul 10, 2019 |
| LOC129931597 | 1 | Jul 10, 2019 |
| LOC129993734 | 1 | Jul 10, 2019 |
| LOC130000622 | 5 | Jul 10, 2019 |
| LOC130059498 | 9 | Jul 10, 2019 |
| LOC130064454 | 4 | Jul 10, 2019 |
| LRSAM1 | 4 | Jul 12, 2019 |
| MFN2 | 137 | Jul 12, 2019 |
| MORC2 | 1 | Jul 12, 2019 |
| MPZ | 172 | Jul 12, 2019 |
| MT-ATP6 | 1 | Jul 12, 2019 |
| MTMR2 | 16 | Jul 10, 2019 |
| NDRG1 | 1 | Jul 10, 2019 |
| NEFL | 18 | Jul 12, 2019 |
| NGF | 3 | Jul 10, 2019 |
| NGF-AS1 | 3 | Jul 10, 2019 |
| NTRK1 | 33 | Jul 10, 2019 |
| PLD3 | 1 | Jul 10, 2019 |
| PLEKHG5 | 2 | Jul 12, 2019 |
| PMP22 | 78 | Jul 12, 2019 |
| POLG | 2 | Jul 12, 2019 |
| POLGARF | 2 | Jul 12, 2019 |
| POLR2F | 2 | Jul 10, 2019 |
| PRX | 35 | Jul 10, 2019 |
| RAB33A | 1 | Jul 10, 2019 |
| RAB7A | 5 | Jul 10, 2019 |
| REEP1 | 3 | Jul 10, 2019 |
| RETREG1 | 5 | Jul 10, 2019 |
| RETREG1-AS1 | 1 | Jul 10, 2019 |
| SBF1 | 1 | Jul 10, 2019 |
| SBF2 | 7 | Jul 10, 2019 |
| SBF2-AS1 | 3 | Jul 10, 2019 |
| SCN11A | 9 | Jul 12, 2019 |
| SCN1A-AS1 | 2 | Jul 10, 2019 |
| SCN9A | 2 | Jul 10, 2019 |
| SDHC | 1 | Jul 10, 2019 |
| SETX | 10 | Jul 10, 2019 |
| SH3TC2 | 48 | Jul 12, 2019 |
| SLC12A6 | 8 | Jul 10, 2019 |
| SLC25A46 | 2 | Jul 12, 2019 |
| SLC5A7 | 1 | Jul 10, 2019 |
| SOX10 | 2 | Jul 10, 2019 |
| SPTLC1 | 6 | Jul 12, 2019 |
| SPTLC2 | 1 | Jul 10, 2019 |
| TFG | 1 | Jul 12, 2019 |
| TRPV4 | 13 | Jul 12, 2019 |
| VRK1 | 2 | Jul 12, 2019 |
| WNK1 | 5 | Jul 10, 2019 |
| YARS1 | 2 | Jul 10, 2019 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Charcot-Marie-Tooth disease | 1119 | Jul 12, 2019 |
| Charcot-Marie-Tooth disease X-linked recessive 4 | 1 | Jul 10, 2019 |
| Dejerine-Sottas disease | 34 | Jul 10, 2019 |
| Distal spinal muscular atrophy | 47 | Jul 12, 2019 |
| Giant axonal neuropathy 1 | 51 | Jul 10, 2019 |
| Hereditary liability to pressure palsies | 6 | Jul 10, 2019 |
| Hereditary motor neuron disease | 13 | Jul 12, 2019 |
| Hereditary sensory and autonomic neuropathy | 2 | Jul 10, 2019 |
| Hereditary spastic paraplegia | 2 | Jul 12, 2019 |
| Neuronopathy, distal hereditary motor, autosomal dominant | 59 | Jul 10, 2019 |
| Neuropathy, hereditary motor and sensory, type 6B | 1 | Jul 31, 2018 |
| not provided | 9 | Jul 12, 2019 |
| not specified | 37 | Jul 10, 2019 |