Inherited Neuropathy Consortium Ii (University Of Miami), Lab-SZU
General information
Inherited Neuropathy Consortium Ii, Lab-SZU
University Of Miami
Miami
Florida
United States
Organization ID: 508951
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 795
Gene
| Gene | Submissions | Last Updated |
|---|
| AARS1 | 6 | Jun 2, 2023 |
| AIFM1 | 4 | Jun 2, 2023 |
| ARHGEF10 | 1 | Jun 2, 2023 |
| ATL1 | 27 | Jun 2, 2023 |
| ATL3 | 1 | Jun 2, 2023 |
| ATP1A1 | 8 | Jun 2, 2023 |
| ATP1A1-AS1 | 7 | Jun 2, 2023 |
| ATP7A | 223 | Jun 2, 2023 |
| BICD2 | 8 | Jun 2, 2023 |
| BSCL2 | 34 | Jun 2, 2023 |
| DCTN1 | 27 | Dec 6, 2023 |
| DHTKD1 | 4 | Dec 6, 2023 |
| DNAJB2 | 3 | Dec 6, 2023 |
| DNM2 | 32 | Dec 6, 2023 |
| DNMT1 | 15 | Dec 6, 2023 |
| DST | 4 | Dec 6, 2023 |
| DYNC1H1 | 31 | Dec 6, 2023 |
| EGR2 | 18 | Dec 6, 2023 |
| FBLN5 | 19 | Dec 6, 2023 |
| FBXO38 | 2 | Dec 6, 2023 |
| FGD4 | 17 | Dec 6, 2023 |
| FIG4 | 43 | Dec 6, 2023 |
| GAN | 66 | Dec 6, 2023 |
| GARS1 | 24 | Dec 6, 2023 |
| GDAP1 | 72 | Dec 6, 2023 |
| GJB1 | 95 | Dec 6, 2023 |
| HNRNPUL2-BSCL2 | 34 | Jun 2, 2023 |
| LNCROPM | 1 | Jun 2, 2023 |
| LOC126862060 | 1 | Dec 6, 2023 |
| LOC129993734 | 1 | Dec 6, 2023 |
| LOC130000622 | 6 | Dec 6, 2023 |
| LOC130056502 | 1 | Dec 6, 2023 |
| LOC130059498 | 10 | Dec 6, 2023 |
| MFN2 | 1 | Feb 24, 2023 |
| PDK3 | 1 | Feb 24, 2023 |
| RAB33A | 4 | Jun 2, 2023 |
| RETREG1 | 5 | Dec 6, 2023 |
| RETREG1-AS1 | 1 | Dec 6, 2023 |
| SETX | 3 | Jun 2, 2023 |
| SH3TC2 | 1 | Feb 24, 2023 |
Condition
| Name | Submissions | Last Updated | | Age-related macular degeneration | 10 | Dec 6, 2023 |
| Amyotrophic lateral sclerosis | 10 | Dec 6, 2023 |
| Amyotrophic lateral sclerosis type 11 | 1 | Feb 24, 2023 |
| Amyotrophic lateral sclerosis type 4 | 3 | Jun 2, 2023 |
| Autosomal dominant Charcot-Marie-Tooth disease type 2K | 4 | Dec 6, 2023 |
| Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures | 4 | Jun 2, 2023 |
| Autosomal dominant hereditary axonal motor and sensory neuropathy | 1 | Jun 2, 2023 |
| Autosomal dominant slowed nerve conduction velocity | 1 | Jun 2, 2023 |
| Autosomal recessive distal spinal muscular atrophy 2 | 3 | Dec 6, 2023 |
| Berardinelli-Seip congenital lipodystrophy | 34 | Jun 2, 2023 |
| Bilateral parasagittal parieto-occipital polymicrogyria | 1 | Dec 6, 2023 |
| Charcot-Marie-Tooth disease X-linked dominant 1 | 95 | Dec 6, 2023 |
| Charcot-Marie-Tooth disease X-linked dominant 6 | 1 | Feb 24, 2023 |
| Charcot-Marie-Tooth disease X-linked recessive 4 | 4 | Jun 2, 2023 |
| Charcot-Marie-Tooth disease axonal type 2K | 47 | Dec 6, 2023 |
| Charcot-Marie-Tooth disease axonal type 2N | 7 | Jun 2, 2023 |
| Charcot-Marie-Tooth disease axonal type 2O | 31 | Dec 6, 2023 |
| Charcot-Marie-Tooth disease dominant intermediate B | 32 | Dec 6, 2023 |
| Charcot-Marie-Tooth disease recessive intermediate A | 1 | Dec 6, 2023 |
| Charcot-Marie-Tooth disease type 1D | 15 | Dec 6, 2023 |
| Charcot-Marie-Tooth disease type 2A2 | 12 | Dec 6, 2023 |
| Charcot-Marie-Tooth disease type 2D | 18 | Dec 6, 2023 |
| Charcot-Marie-Tooth disease type 4A | 20 | Dec 6, 2023 |
| Charcot-Marie-Tooth disease type 4C | 1 | Feb 24, 2023 |
| Charcot-Marie-Tooth disease type 4H | 17 | Dec 6, 2023 |
| Charcot-Marie-Tooth disease type 4J | 25 | Dec 6, 2023 |
| Charcot-Marie-tooth disease, axonal, type 2DD | 1 | Feb 24, 2023 |
| Cutis laxa, X-linked | 12 | Jun 2, 2023 |
| Cutis laxa, autosomal dominant | 7 | Dec 6, 2023 |
| Dejerine-Sottas disease | 2 | Dec 6, 2023 |
| Distal hereditary motor neuropathy type 2 | 1 | Dec 6, 2023 |
| ERG2-related disorder | 1 | Feb 24, 2023 |
| Giant axonal neuropathy 1 | 66 | Dec 6, 2023 |
| Hereditary sensorimotor neuropathy with hyperelastic skin | 2 | Dec 6, 2023 |
| Hereditary sensory and autonomic neuropathy type 2 | 5 | Dec 6, 2023 |
| Hereditary sensory and autonomic neuropathy type 6 | 4 | Dec 6, 2023 |
| Hereditary sensory neuropathy-deafness-dementia syndrome | 15 | Dec 6, 2023 |
| Hereditary spastic paraplegia 3A | 29 | Jun 2, 2023 |
| Menkes kinky-hair syndrome | 211 | Jun 2, 2023 |
| Neuronopathy, distal hereditary motor, type 2D | 1 | Feb 24, 2023 |
| Neuronopathy, distal hereditary motor, type 5 | 6 | Dec 6, 2023 |
| Neuronopathy, distal hereditary motor, type 5B | 1 | Jun 2, 2023 |
| Perry syndrome | 27 | Dec 6, 2023 |
| Yunis-Varon syndrome | 6 | Dec 6, 2023 |
