Possible mitochondrial disorder - nuclear genes
Gene: ANO10EnsemblGeneIds (GRCh38): ENSG00000160746
EnsemblGeneIds (GRCh37): ENSG00000160746
OMIM: 613726, Gene2Phenotype
ANO10 is in 10 panels
6 reviews
Ida Ertmanska (Genomics England Curator)
The rating of this gene has been updated to amber following NHS Genomic Medicine Service approval.Created: 12 Dec 2025, 11 a.m. | Last Modified: 12 Dec 2025, 11 a.m.
Panel Version: 4.17
Achchuthan Shanmugasundram (Genomics England Curator)
Zornitza Stark (Australian Genomics) has rated ANO10 red on Mitochondrial disorders panel (https://panelapp.genomicsengland.co.uk/panels/112/gene/ANO10/) and has requested that the association between ANO10 variants and mitochondrial disease could be reviewed. She suggested that the reported CoQ10 deficiency appears to be secondary in the cited publication.
This gene has been demoted to amber in Mitochondrial disorders panel after being reviewed and agreed by the NHS Genomic Medicine Service. Hence, this gene is now recommended for demotion to amber on this panel and opinion is being sought from the NHS mitochondrial specialist teams on this.Created: 6 Jun 2025, 9:39 a.m. | Last Modified: 6 Jun 2025, 9:51 a.m.
Panel Version: 4.3
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spinocerebellar ataxia, autosomal recessive 10, OMIM:613728
Publications
Ivone Leong (Genomics England Curator)
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.Created: 4 Feb 2019, 1:36 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spinocerebellar ataxia, autosomal recessive 10, 613728
Zornitza Stark (Australian Genomics)
Definitely a green gene, but the link to mitochondrial function/disease seems indirect.Created: 27 Aug 2018, 8:45 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Seems to be strong evidence for association with Spinocerebellar ataxia, and green review from expert.Created: 26 Feb 2016, 12:11 p.m.
Shamima Rahman (UCL Institute of Child Health)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- NHS GMS
- Phenotypes
-
- Spinocerebellar ataxia, autosomal recessive 10, OMIM:613728
- OMIM
- 613726
- Clinvar variants
- Variants in ANO10
- Penetrance
- None
- Publications
- Panels with this gene
-
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Childhood onset dystonia, chorea or related movement disorder
- Intellectual disability
- Possible mitochondrial disorder - nuclear genes
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
- Hereditary ataxia
- Ataxia and cerebellar anomalies - narrow panel
- Mitochondrial disorders
History Filter Activity
Removed Tag, Removed Tag
Ida Ertmanska (Genomics England Curator)Tag Q2_25_expert_review was removed from gene: ANO10. Tag Q2_25_ demote_amber was removed from gene: ANO10.
Added New Source, Status Update
Ida Ertmanska (Genomics England Curator)Source Expert Review Amber was added to ANO10. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: ANO10 were changed from Spinocerebellar ataxia, autosomal recessive 10, 613728 to Spinocerebellar ataxia, autosomal recessive 10, OMIM:613728
Set publications
Achchuthan Shanmugasundram (Genomics England Curator)Publications for gene: ANO10 were set to
Added Tag, Added Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q2_25_expert_review tag was added to gene: ANO10. Tag Q2_25_ demote_amber tag was added to gene: ANO10.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: ANO10 was added gene: ANO10 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ANO10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ANO10 were set to Spinocerebellar ataxia, autosomal recessive 10, 613728