Adult onset dystonia, chorea or related movement disorder
Gene: APTXEnsemblGeneIds (GRCh38): ENSG00000137074
EnsemblGeneIds (GRCh37): ENSG00000137074
OMIM: 606350, Gene2Phenotype
APTX is in 16 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Review and rating submitted by James Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.Created: 23 Apr 2019, 1:19 p.m.
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- London North GLH
- Expert Review Green
- Phenotypes
-
- Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia OMIM:208920
- ataxia with oculomotor apraxia type 1 MONDO:0008842
- OMIM
- 606350
- Clinvar variants
- Variants in APTX
- Penetrance
- None
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Hereditary neuropathy
- Hereditary neuropathy or pain disorder
- Childhood onset dystonia, chorea or related movement disorder
- Adult onset neurodegenerative disorder
- Intellectual disability
- Fetal anomalies
- DDG2P
- Ataxia and cerebellar anomalies - narrow panel
- Likely inborn error of metabolism
- Mitochondrial disorders
- Hereditary ataxia with onset in adulthood
- Early onset dystonia
- Adult onset dystonia, chorea or related movement disorder
- Hereditary ataxia
- Possible mitochondrial disorder - nuclear genes
History Filter Activity
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: APTX were changed from Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia OMIM:208920 to Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia OMIM:208920; ataxia with oculomotor apraxia type 1 MONDO:0008842
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: APTX were changed from Dystonia to Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia OMIM:208920
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to APTX.
Added New Source
Louise Daugherty (Genomics England Curator)Source London North GLH was added to APTX.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: APTX was added gene: APTX was added to Adult onset movement disorder. Sources: Expert Review Green Mode of inheritance for gene: APTX was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: APTX were set to Dystonia