Fetal anomalies
Gene: MSTO1Comment on mode of inheritance: The mode of inheritance should be changed to BIALLELIC, autosomal or pseudoautosomal.Created: 20 Feb 2024, 2:10 p.m. | Last Modified: 20 Feb 2024, 2:10 p.m.
Panel Version: 3.135
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).Created: 20 Feb 2024, 1:03 p.m. | Last Modified: 20 Feb 2024, 1:03 p.m.
Panel Version: 3.133
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 3 Mar 2022, 11:19 a.m. | Last Modified: 3 Mar 2022, 11:19 a.m.
Panel Version: 1.836
Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)Created: 29 Jan 2021, 3:32 p.m. | Last Modified: 29 Jan 2021, 3:32 p.m.
Panel Version: 1.263
This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.
Green on related panel(s): Neuromuscular disorders
Sources: Expert listCreated: 28 Jan 2021, 5:13 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Myopathy, mitochondrial, and ataxia
Mode of inheritance for gene: MSTO1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Tag Q1_24_MOI tag was added to gene: MSTO1.
Publications for gene: MSTO1 were set to 29339779; 28544275; 31604776; 31130378; 28554942
Tag for-review was removed from gene: MSTO1.
Source Expert Review Green was added to MSTO1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Publications for gene: MSTO1 were set to
Phenotypes for gene: MSTO1 were changed from Myopathy, mitochondrial, and ataxia to Myopathy, mitochondrial, and ataxia, OMIM:617675; Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome, MONDO:0044714
Gene: msto1 has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: MSTO1.
gene: MSTO1 was added gene: MSTO1 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: MSTO1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: MSTO1 were set to Myopathy, mitochondrial, and ataxia Review for gene: MSTO1 was set to GREEN