MYORG (myogenesis regulating glycosidase (putative))

2017-09-01 Affiliation

Identity

HGNC

MYORG

LOCATION

9p13.3

LOCUSID

57462

ALIAS

IBGC7,KIAA1161,NET37

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)

Not detected

Low

Medium

High

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/myorg-(myogenesis-regulating-glycosidase-(putative))