Monogenic short stature

Gene: MSTO1

The mode of inheritance of this gene has been updated to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.

Created: 11 Dec 2025, 1:25 p.m. | Last Modified: 11 Dec 2025, 1:25 p.m.

Panel Version: 1.27

Comment 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

Green List (high evidence)

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

• 37431817

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

I don't know

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: Literature

Created: 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

• 29339779
• 28544275
• 31604776
• 31130378
• 28554942