MyeliNeuroGene Lab (McGill University Health Center Research Institute)
General information
MyeliNeuroGene Lab
McGill University Health Center Research Institute
1001 boul Décarie
Site Glen Pavilion E / Block E, CHHD Mail Drop Point #EM03211 (cubicle C)
Montreal
Quebec
Canada - H4A 3J1
https://myelineurogene.com
Organization ID: 320379
McGill University Health Center Research Institute
1001 boul Décarie
Site Glen Pavilion E / Block E, CHHD Mail Drop Point #EM03211 (cubicle C)
Montreal
Quebec
Canada - H4A 3J1
https://myelineurogene.com
Organization ID: 320379
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 54
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| AGA | 2 | Jan 16, 2023 |
| GJA1 | 1 | Jan 16, 2023 |
| LOC129996517 | 1 | Jan 21, 2019 |
| LOC130063295 | 1 | Jan 16, 2023 |
| LSM7 | 2 | Jan 29, 2021 |
| NDUFA2 | 2 | May 31, 2017 |
| NRROS | 2 | Oct 14, 2021 |
| POLR1C | 29 | Jan 21, 2019 |
| POLR3A | 8 | Jan 16, 2023 |
| POLR3K | 2 | Mar 24, 2023 |
| SLC17A5 | 1 | Jul 15, 2022 |
| TMCO6 | 2 | May 31, 2017 |
| TMEM106B | 1 | Jan 16, 2023 |
| TUBB4A | 1 | Jan 16, 2023 |
| VARS1 | 2 | Apr 6, 2018 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Aspartylglucosaminuria | 2 | Jan 16, 2023 |
| Cystic Leukoencephalopathy | 2 | May 31, 2017 |
| Hypomyelinating leukodystrophy 11 | 29 | Jan 21, 2019 |
| Hypomyelinating leukodystrophy 6 | 1 | Jan 16, 2023 |
| In utero death | 1 | Jan 29, 2021 |
| Intermediate severe Salla disease | 1 | Jul 15, 2022 |
| Leukodystrophy | 1 | Jan 29, 2021 |
| Leukodystrophy, hypomyelinating, 16 | 1 | Jan 16, 2023 |
| Leukodystrophy, hypomyelinating, 21 | 2 | Mar 24, 2023 |
| Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | 8 | Jan 16, 2023 |
| Mitochondrial complex 4 deficiency, nuclear type 17 | 1 | Feb 7, 2023 |
| Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy | 2 | Apr 6, 2018 |
| Oculodentodigital dysplasia | 1 | Jan 16, 2023 |
| Seizures, early-onset, with neurodegeneration and brain calcifications | 2 | Oct 14, 2021 |