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| Retinal disorders v4.64 | MSTO1 | Sarah Leigh Publications for gene: MSTO1 were set to 29339779; 28544275; 31604776; 31130378; 28554942 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v4.63 | MSTO1 |
Sarah Leigh changed review comment from: 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.; to: 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). |
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| Retinal disorders v4.63 | MSTO1 | Sarah Leigh reviewed gene: MSTO1: Rating: ; Mode of pathogenicity: None; Publications: 28554942, 37431817; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.243 | MSTO1 | Ivone Leong Tag for-review was removed from gene: MSTO1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.243 | MSTO1 | Ivone Leong commented on gene: MSTO1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.243 | MSTO1 |
Ivone Leong Source Expert Review Green was added to MSTO1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Retinal disorders v2.91 | MSTO1 | Ivone Leong Classified gene: MSTO1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.91 | MSTO1 |
Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and not in Gene2Phenotype. There are at least 7 unrelated cases who are biallelic for variants in this gene and 1 family of patients (4 affected) who are monoallelic for variants in this gene. For patients who are biallelic, there are 3 cases that reported pigmentary retinopathy. 5 out of 7 cases had growth impairments. For patients who are monoallelic there are no ophthalmological findings and growth impairment was only reported for 1 affected individual. As not all affected individuals with biallelic variants showed a retinal disorder this gene has been given an Amber rating. Whether there is enough evidence to support a gene-disease association and for this gene to be rated Green should be reviewed by the GMS specialist group. |
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| Retinal disorders v2.91 | MSTO1 | Ivone Leong Gene: msto1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.90 | MSTO1 | Ivone Leong Tag for-review tag was added to gene: MSTO1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.90 | MSTO1 | Ivone Leong Publications for gene: MSTO1 were set to 29339779; 28544275 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.89 | MSTO1 | Ivone Leong Phenotypes for gene: MSTO1 were changed from Myopathy, mitochondrial, and ataxia MIM#617675 to Myopathy, mitochondrial, and ataxia, OMIM:617675 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.17 | MSTO1 |
Zornitza Stark gene: MSTO1 was added gene: MSTO1 was added to Retinal disorders. Sources: Expert list Mode of inheritance for gene: MSTO1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MSTO1 were set to 29339779; 28544275 Phenotypes for gene: MSTO1 were set to Myopathy, mitochondrial, and ataxia MIM#617675 Review for gene: MSTO1 was set to GREEN Added comment: Pigmentary retinopathy reported as a feature of the condition in at least 3 unrelated cases with biallelic variants. Sources: Expert list |
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