Mitochondrial disorders
Gene: APTXEnsemblGeneIds (GRCh38): ENSG00000137074
EnsemblGeneIds (GRCh37): ENSG00000137074
OMIM: 606350, Gene2Phenotype
APTX is in 16 panels
3 reviews
Zornitza Stark (Australian Genomics)
Definitely a green gene, but the link to mitochondrial disease seems indirect.Created: 27 Aug 2018, 9:39 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Green review and confirmed DD gene.Created: 26 Feb 2016, 12:21 p.m.
Shamima Rahman (UCL Institute of Child Health)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Expert list
- Phenotypes
-
- Disorders of ubiquinone metabolism and biosynthesis
- Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920
- Ataxia with oculomotor apraxia 1
- OMIM
- 606350
- Clinvar variants
- Variants in APTX
- Penetrance
- Complete
- Panels with this gene
-
- Ataxia and cerebellar anomalies - childhood onset
- Undiagnosed metabolic disorders
- Hereditary ataxia
- Fetal anomalies
- Neurodegenerative disorders, adult onset
- Possible mitochondrial disorder, nuclear genes
- Early onset dystonia
- Likely inborn error of metabolism
- Intellectual disability
- Dystonia, chorea or related movement disorder, childhood onset
- Dystonia, chorea or related movement disorder, adult onset
- Hereditary neuropathy
- Hereditary ataxia, adult onset
- DDG2P
- Mitochondrial disorders
- Hereditary neuropathy or pain disorder
History Filter Activity
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for APTX were set to Disorders of ubiquinone metabolism and biosynthesis; Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920; Ataxia with oculomotor apraxia 1
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for APTX 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)APTX was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert list,Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)APTX was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert list,Radboud University Medical Center, Nijmegen