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Growth failure in early childhood v3.8 MSTO1 Arina Puzriakova Tag Q1_24_NHS_review tag was added to gene: MSTO1.
Growth failure in early childhood v3.8 MSTO1 Sarah Leigh Added comment: Comment on mode of inheritance: The mode of inheritance should be changed to BIALLELIC, autosomal or pseudoautosomal.
Growth failure in early childhood v3.8 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
Growth failure in early childhood v3.7 MSTO1 Sarah Leigh Tag Q1_24_MOI tag was added to gene: MSTO1.
Growth failure in early childhood v3.7 MSTO1 Sarah Leigh Publications for gene: MSTO1 were set to 29339779; 28544275; 31604776; 31130378; 28554942
Growth failure in early childhood v3.6 MSTO1 Sarah Leigh reviewed gene: MSTO1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Growth failure in early childhood v3.6 MSTO1 Suzanne Page changed review comment from: 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.; to: 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."
Growth failure in early childhood v3.6 MSTO1 Suzanne Page reviewed gene: MSTO1: Rating: GREEN; Mode of pathogenicity: None; Publications: 37431817; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Growth failure in early childhood v2.33 MSTO1 Catherine Snow Tag Q1_22_MOI was removed from gene: MSTO1.
Growth failure in early childhood v2.33 MSTO1 Catherine Snow commented on gene: MSTO1
Growth failure in early childhood v2.32 MSTO1 Catherine Snow 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
Growth failure in early childhood v1.100 MSTO1 Ivone Leong Tag Q1_22_MOI tag was added to gene: MSTO1.
Growth failure in early childhood v1.100 MSTO1 Ivone Leong edited their review of gene: MSTO1: Added comment: MOI should be changed from "Biallelic" to "Both monoallelic and biallelic".; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Growth failure in early childhood v1.100 MSTO1 Ivone Leong Tag for-review was removed from gene: MSTO1.
Growth failure in early childhood v1.100 MSTO1 Ivone Leong commented on gene: MSTO1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Growth failure in early childhood v1.99 MSTO1 Ivone Leong Source Expert Review Green was added to MSTO1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Growth failure in early childhood v1.31 MSTO1 Ivone Leong Classified gene: MSTO1 as Amber List (moderate evidence)
Growth failure in early childhood v1.31 MSTO1 Ivone Leong Gene: msto1 has been classified as Amber List (Moderate Evidence).
Growth failure in early childhood v1.30 MSTO1 Ivone Leong 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
Added comment: 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: Literature