Mitochondrial disorders
Gene: ANO10
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
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
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.
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.
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
Publications for gene: ANO10 were set to
Tag Q3_23_expert_review tag was added to gene: ANO10.
This gene has been classified as Green List (High Evidence).
Mode of inheritance for ANO10 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
ANO10 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Radboud University Medical Center, Nijmegen