Mitochondrial disorders
Gene: ANO10EnsemblGeneIds (GRCh38): ENSG00000160746
EnsemblGeneIds (GRCh37): ENSG00000160746
OMIM: 613726, Gene2Phenotype
ANO10 is in 10 panels
5 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
The rating of this gene has been updated to amber following NHS Genomic Medicine Service approval.Created: 26 Sep 2024, 3:51 p.m. | Last Modified: 26 Sep 2024, 3:51 p.m.
Panel Version: 7.3
Sarah Leigh (Genomics England Curator)
Zornitza Stark has rated ANO10 red on this panel (Mitochondrial disorders) and has requested that the association between ANO10 variants and mitochondrial disease could be reviewed. This panel is overseen by the NHS mitochondrial specialist teams, their opinion on this issue is being sought.Created: 25 Jul 2023, 2:02 p.m. | Last Modified: 25 Jul 2023, 2:02 p.m.
Panel Version: 4.57
Zornitza Stark (Australian Genomics)
I don't think this is a mitochondrial disorder. The reported CoQ10 deficiency appears to be secondary.Created: 18 Mar 2020, 6:27 a.m. | Last Modified: 18 Mar 2020, 6:27 a.m.
Panel Version: 2.5
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
Phenotypes
Spinocerebellar ataxia, autosomal recessive 10, MIM# 613728
Publications
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
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Spinocerebellar ataxia, autosomal recessive 10, OMIM:613728
- autosomal recessive spinocerebellar ataxia 10, MONDO:0013392
- OMIM
- 613726
- Clinvar variants
- Variants in ANO10
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Ataxia and cerebellar anomalies - narrow panel
- Mitochondrial disorders
- Possible mitochondrial disorder - nuclear genes
- Hereditary ataxia
History Filter Activity
Removed Tag, Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q2_24_demote_amber was removed from gene: ANO10. Tag Q2_24_expert_review was removed from gene: ANO10.
Added New Source, Added New Source, Status Update
Achchuthan Shanmugasundram (Genomics England Curator)Source NHS GMS was added to ANO10. Source Expert Review Amber was added to ANO10. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Removed Tag, Added Tag, Added Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q3_23_expert_review was removed from gene: ANO10. Tag Q2_24_demote_amber tag was added to gene: ANO10. Tag Q2_24_expert_review tag was added to gene: ANO10.
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: ANO10 were changed from Spinocerebellar ataxia, autosomal recessive 10, 613728 to Spinocerebellar ataxia, autosomal recessive 10, OMIM:613728; autosomal recessive spinocerebellar ataxia 10, MONDO:0013392
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: ANO10 were set to
Added Tag
Sarah Leigh (Genomics England Curator)Tag Q3_23_expert_review tag was added to gene: ANO10.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for ANO10 was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)ANO10 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Radboud University Medical Center, Nijmegen