Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 57462
MIM: 618255
HGNC: 19918
Ensembl: ENSG00000164976
Variants:
dbSNP: 57462
ClinVar: 57462
TCGA: ENSG00000164976
COSMIC: MYORG
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000164976 | ENST00000297625 | Q6NSJ0 |
| ENSG00000164976 | ENST00000379142 | X6RA92 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37680026 | 2023 | Fahr's disease linked to a novel mutation in MYORG variants manifesting as paroxysmal limb stiffness and dysarthria: Case report and literature review. | 1 |
| 37680026 | 2023 | Fahr's disease linked to a novel mutation in MYORG variants manifesting as paroxysmal limb stiffness and dysarthria: Case report and literature review. | 1 |
| 34346093 | 2021 | Paroxysmal Kinesigenic Dyskinesia Secondary to Brain Calcification with a Homozygous MYORG Mutation. | 0 |
| 34346093 | 2021 | Paroxysmal Kinesigenic Dyskinesia Secondary to Brain Calcification with a Homozygous MYORG Mutation. | 0 |
| 31951047 | 2020 | MYORG Mutation Heterozygosity Is Associated With Brain Calcification. | 7 |
| 32896900 | 2020 | MYORG gene disease-causing variants in a family with primary familial brain calcification presenting with stroke-like episodes. | 2 |
| 31951047 | 2020 | MYORG Mutation Heterozygosity Is Associated With Brain Calcification. | 7 |
| 32896900 | 2020 | MYORG gene disease-causing variants in a family with primary familial brain calcification presenting with stroke-like episodes. | 2 |
| 30589467 | 2019 | Evaluation of MYORG mutations as a novel cause of primary familial brain calcification. | 11 |
| 30649222 | 2019 | A biallelic mutation links MYORG to autosomal-recessive primary familial brain calcification. | 6 |
| 30656188 | 2019 | MYORG is associated with recessive primary familial brain calcification. | 11 |
| 30895394 | 2019 | Primary familial brain calcification caused by a novel homozygous MYORG mutation in a consanguineous Italian family. | 7 |
| 31009047 | 2019 | Biallelic MYORG mutation carriers exhibit primary brain calcification with a distinct phenotype. | 26 |
| 31621601 | 2019 | Primary familial brain calcification caused by MYORG mutations in an Italian family. | 3 |
| 30589467 | 2019 | Evaluation of MYORG mutations as a novel cause of primary familial brain calcification. | 11 |
Citation
Dessen P
MYORG (myogenesis regulating glycosidase (putative))
Atlas Genet Cytogenet Oncol Haematol. 2017-09-01
Online version: http://atlasgeneticsoncology.org/gene/78831/
