Growth failure in early childhood
Gene: MSTO1Comment on mode of inheritance: The mode of inheritance should be changed to BIALLELIC, autosomal or pseudoautosomal.Created: 20 Feb 2024, 2:12 p.m. | Last Modified: 20 Feb 2024, 2:12 p.m.
Panel Version: 3.8
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, 1:04 p.m. | Last Modified: 20 Feb 2024, 1:04 p.m.
Panel Version: 3.6
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
The mode of inheritance for this disorder should be changed to Biallelic. The only reported case of autosomal dominant inheritance (PMID 37431817) has been redacted. "The associated claims regarding the presence of MSTO1 mutation c.22 G > A (p.Val8Met) in the investigated patients and the direct link between this mutation and patients' myopathy and ataxia phenotypes are retracted."Created: 9 Feb 2024, 5:04 p.m. | Last Modified: 9 Feb 2024, 5:06 p.m.
Panel Version: 3.6
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Variants in this GENE are reported as part of current diagnostic practice
The mode of inheritance of this gene has been updated to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.Created: 31 Jan 2023, 5:28 p.m. | Last Modified: 31 Jan 2023, 5:28 p.m.
Panel Version: 2.33
MOI should be changed from "Biallelic" to "Both monoallelic and biallelic".Created: 3 Mar 2022, 1:57 p.m. | Last Modified: 3 Mar 2022, 1:57 p.m.
Panel Version: 1.100
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 3 Mar 2022, 1:49 p.m. | Last Modified: 3 Mar 2022, 1:49 p.m.
Panel Version: 1.100
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.
Based on the available evidence about individuals with biallelic variants, this gene has been given an Amber rating but should be considered for Green status at the next review.
Sources: LiteratureCreated: 7 Jan 2021, 3:12 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Myopathy, mitochondrial, and ataxia, OMIM:617675
Publications
Tag Q1_24_NHS_review tag was added to gene: MSTO1.
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 Q1_22_MOI was removed from gene: MSTO1.
Source NHS GMS was added to MSTO1. Mode of inheritance for gene MSTO1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Tag Q1_22_MOI tag was added to gene: MSTO1.
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)
Gene: msto1 has been classified as Amber List (Moderate Evidence).
gene: MSTO1 was added gene: MSTO1 was added to Growth failure in early childhood. Sources: Literature for-review tags were added to gene: MSTO1. Mode of inheritance for gene: MSTO1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MSTO1 were set to 29339779; 28544275; 31604776; 31130378; 28554942 Phenotypes for gene: MSTO1 were set to Myopathy, mitochondrial, and ataxia, OMIM:617675 Review for gene: MSTO1 was set to AMBER