Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Retinal disorders

Gene: MSTO1

Green List (high evidence)

MSTO1 (misato 1, mitochondrial distribution and morphology regulator)
EnsemblGeneIds (GRCh38): ENSG00000125459
EnsemblGeneIds (GRCh37): ENSG00000125459
OMIM: 617619, Gene2Phenotype
MSTO1 is in 10 panels

2 reviews

Ivone Leong (Genomics England Curator)

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

Zornitza Stark (Australian Genomics)

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

History Filter Activity

8 Mar 2022, Gel status: 3

Removed Tag

Ivone Leong (Genomics England Curator)

Tag for-review was removed from gene: MSTO1.

8 Mar 2022, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Green was added to MSTO1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

7 Jan 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: msto1 has been classified as Amber List (Moderate Evidence).

7 Jan 2021, Gel status: 0

Added Tag

Ivone Leong (Genomics England Curator)

Tag for-review tag was added to gene: MSTO1.

7 Jan 2021, Gel status: 0

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: MSTO1 were set to 29339779; 28544275

7 Jan 2021, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: MSTO1 were changed from Myopathy, mitochondrial, and ataxia MIM#617675 to Myopathy, mitochondrial, and ataxia, OMIM:617675

12 Oct 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

gene: MSTO1 was added gene: MSTO1 was added to Retinal disorders. Sources: Expert list Mode of inheritance for gene: MSTO1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MSTO1 were set to 29339779; 28544275 Phenotypes for gene: MSTO1 were set to Myopathy, mitochondrial, and ataxia MIM#617675 Review for gene: MSTO1 was set to GREEN