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Congenital muscular dystrophy v4.23 | MSTO1 | Sarah Leigh Added comment: Comment on mode of inheritance: The mode of inheritance should be changed to BIALLELIC, autosomal or pseudoautosomal. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital muscular dystrophy v4.23 | MSTO1 | Sarah Leigh Mode of inheritance for gene: MSTO1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital muscular dystrophy v4.22 | MSTO1 | Sarah Leigh Publications for gene: MSTO1 were set to 28544275; 28554942; 31130378; 29339779; 37431817 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital muscular dystrophy v4.21 | MSTO1 | Sarah Leigh Publications for gene: MSTO1 were set to 28544275; 28554942; 31130378; 29339779 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital muscular dystrophy v4.20 | MSTO1 | Sarah Leigh Tag Q1_24_MOI tag was added to gene: MSTO1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital muscular dystrophy v4.20 | MSTO1 |
Sarah Leigh edited their review of gene: MSTO1: Added comment: Gal et al (2017) reported a family with autosomal dominant mitochondrial myopathy and ataxia caused by a monoallelic MSTO1 variant (PMID: 28554942). Subsequently, the variant involved (rs762798018) has been reclassified as a variant of unknown significance, this is because Gal et al (2023)(PMID:37431817) have retracted their claim that there is a direct link between the variant and the patients' myopathy and ataxia phenotypes. There are no further reports of monoallelic Myopathy, mitochondrial, and ataxia (OMIM:617675).; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal |
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Congenital muscular dystrophy v3.68 | MSTO1 | Arina Puzriakova Phenotypes for gene: MSTO1 were changed from Myopathy, mitochondrial, and ataxia OMIM:617675; mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome MONDO:0044714 to Myopathy, mitochondrial, and ataxia, OMIM:617675 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital muscular dystrophy v2.7 | MSTO1 |
Sarah Leigh changed review comment from: Comment on phenotypes: Myopathy, mitochondrial, and ataxia OMIM:617675; mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome MONDO:0044714 Congenital muscular dystrophy with Brain involvment; to: Comment on phenotypes: Congenital muscular dystrophy with Brain involvment |
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Congenital muscular dystrophy v2.7 | MSTO1 |
Sarah Leigh Added comment: Comment on phenotypes: Myopathy, mitochondrial, and ataxia OMIM:617675; mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome MONDO:0044714 Congenital muscular dystrophy with Brain involvment |
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Congenital muscular dystrophy v2.7 | MSTO1 | Sarah Leigh Phenotypes for gene: MSTO1 were changed from Congenital muscular dystrophy with Brain involvment; Myopathy, mitochondrial, and ataxia, 617675 to Myopathy, mitochondrial, and ataxia OMIM:617675; mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome MONDO:0044714 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital muscular dystrophy v1.58 | MSTO1 | Ivone Leong changed review comment from: Comment on list classification: Promoted from red to green. MSTO1 is associated with a phenotype in OMIM but not in Gene2Phenotype. There are >3 unrelated cases (PMID: 28544275; 28554942; 31130378) of patients with different variants in this gene who have muscular dystrophy.; to: Comment on list classification: Promoted from red to green. MSTO1 is associated with a phenotype in OMIM but not in Gene2Phenotype. There are >3 unrelated cases (PMID: 28544275; 28554942; 31130378;29339779) of patients with different variants in this gene who have muscular dystrophy. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital muscular dystrophy v1.58 | MSTO1 | Ivone Leong Publications for gene: MSTO1 were set to 28544275; 28554942; 31130378 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital muscular dystrophy v1.54 | MSTO1 | Ivone Leong Classified gene: MSTO1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital muscular dystrophy v1.54 | MSTO1 | Ivone Leong Added comment: Comment on list classification: Promoted from red to green. MSTO1 is associated with a phenotype in OMIM but not in Gene2Phenotype. There are >3 unrelated cases (PMID: 28544275; 28554942; 31130378) of patients with different variants in this gene who have muscular dystrophy. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital muscular dystrophy v1.54 | MSTO1 | Ivone Leong Gene: msto1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital muscular dystrophy v1.53 | MSTO1 | Ivone Leong Added comment: Comment on mode of inheritance: PMID: 28554942 reported on a case of patient who is heterozygous for a variant in this gene. While the other PMIDs reported on biallelic cases. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital muscular dystrophy v1.53 | MSTO1 | Ivone Leong Mode of inheritance for gene: MSTO1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital muscular dystrophy v1.52 | MSTO1 | Ivone Leong Publications for gene: MSTO1 were set to 28544275 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital muscular dystrophy v1.43 | MSTO1 | Louise Daugherty reviewed gene: MSTO1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital muscular dystrophy v1.35 | MSTO1 | Louise Daugherty Mode of inheritance for gene: MSTO1 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital muscular dystrophy v1.34 | MSTO1 | Louise Daugherty Phenotypes for gene: MSTO1 were changed from to Congenital muscular dystrophy with Brain involvment; Myopathy, mitochondrial, and ataxia, 617675 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital muscular dystrophy v1.33 | MSTO1 | Louise Daugherty Publications for gene: MSTO1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital muscular dystrophy v1.24 | MSTO1 | Rachael Mein reviewed gene: MSTO1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28544275; Phenotypes: Congenital muscular dystrophy with Brain involvment, Myopathy, mitochondrial, and ataxia, 617675; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital muscular dystrophy v1.23 | MSTO1 | Louise Daugherty Source NHS GMS was added to MSTO1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital muscular dystrophy v1.22 | MSTO1 |
Louise Daugherty gene: MSTO1 was added gene: MSTO1 was added to Congenital muscular dystrophy. Sources: London South GLH Mode of inheritance for gene: MSTO1 was set to |