Retinal disordersGene: MSTO1
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
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
Myopathy, mitochondrial, and ataxia MIM#617675
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).
Tag for-review tag was added to gene: MSTO1.
Publications for gene: MSTO1 were set to 29339779; 28544275
Phenotypes for gene: MSTO1 were changed from Myopathy, mitochondrial, and ataxia MIM#617675 to Myopathy, mitochondrial, and ataxia, OMIM:617675
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