Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
Gene: MYOT
As suggested by Zornitza Stark, this gene is currently associated with myofibrillar myopathy-3 (MIM# 609200) in OMIM. Some cases of myofibrillar myopathy-3 were previously classified as a form of limb-girdle muscular dystrophy, type 1A (LGMD1A). LGMD1A has now been reclassified as a form of myofibrillar myopathy.
However, the clinical indication of this panel R82 has now been renamed 'Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies' and the eligibility criteria now includes overlapping phenotypes such as distal myopathy or myofibrillar myopathy.Created: 4 Mar 2023, 5:43 p.m. | Last Modified: 4 Mar 2023, 5:43 p.m.
Panel Version: 3.9
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Myopathy, myofibrillar, 3, OMIM:609200; Myopathy, spheroid body, OMIM:182920
Associated phenotype was previously known as LGMD1/LGMD1A (OMIM; PMID: 30055862). Phenotypic overlap. PMID: 21336781: Reported a severe case of LGMD. Patient presented with late onset progressive proximal muscle weakness. CK was slightly elevated. Authors concluded that gene is a rare cause of adult onset LGMD. However, note that variant is present in gnomAD (12 hets). PMID: 15947064: 5 variants reported in 13 patients (including 3 families). Late onset, EMG showed myopathic changes in most patients. However, also note nighest MAF (10 hets in gnomAD; Ser60Phe). 9/13 did not show elevated CK levels.Created: 1 Jul 2020, 7:39 a.m. | Last Modified: 1 Jul 2020, 7:39 a.m.
Panel Version: 2.6
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Myopathy, myofibrillar, 3 (MIM#609200)
Publications
Listed as associated with Limb Girdle Muscular Dystrophy by Gene Advisor (June 2016), Steve AbbsCreated: 27 Jul 2016, 8:25 a.m.
Phenotypes for gene: MYOT were changed from Myopathy, myofibrillar, 3, OMIM:609200; Myopathy, spheroid body, OMIM:182920 to Myopathy, myofibrillar, 3, OMIM:609200; Myopathy, spheroid body, OMIM:182920
Phenotypes for gene: MYOT were changed from Myopathy, myofibrillar, 3, OMIM:609200; Myopathy, spheroid body, OMIM:182920 to Myopathy, myofibrillar, 3, OMIM:609200; Myopathy, spheroid body, OMIM:182920
Phenotypes for gene: MYOT were changed from Myopathy, myofibrillar, 3, OMIM:609200 to Myopathy, myofibrillar, 3, OMIM:609200; Myopathy, spheroid body, OMIM:182920
Phenotypes for gene: MYOT were changed from Limb-Girdle Muscular Dystrophy, Dominant; Muscular dystrophy, limb-girdle, type 1A, 159000; Limb-girdle muscular dystrophy to Myopathy, myofibrillar, 3, OMIM:609200
Comments from Fiona Karet included. A Green review for each gene relevant for this panel on the Gene Advisor download has been included.
This gene has been classified as Green List (High Evidence).
Publications for MYOT were set to http://www.ncbi.nlm.nih.gov/books/NBK1408/
Mode of inheritance for MYOT was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Model of inheritance for gene MYOT was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
MYOT was added to Limb girdle muscular dystrophypanel. Sources: Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen
Model of inheritance for gene MYOT was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
MYOT was added to Limb girdle muscular dystrophypanel. Sources: Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen
MYOT was added to Limb girdle muscular dystrophypanel. Sources: Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen