Retinal disorders

Gene: MSTO1

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 p.m. | Last Modified: 20 Feb 2024, 1:02 p.m.

Panel Version: 4.63

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

• 28554942
• 37431817

The rating of this gene has been updated following NHS Genomic Medicine Service approval.

Created: 8 Mar 2022, 10:06 a.m. | Last Modified: 8 Mar 2022, 10:06 a.m.

Panel Version: 2.243

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.

Created: 7 Jan 2021, 3:06 p.m. | Last Modified: 7 Jan 2021, 3:06 p.m.

Panel Version: 2.91

Green List (high evidence)

Pigmentary retinopathy reported as a feature of the condition in at least 3 unrelated cases with biallelic variants.
Sources: Expert list

Created: 12 Oct 2020, 2:01 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myopathy, mitochondrial, and ataxia MIM#617675

Publications

• 29339779
• 28544275