1. Panels
  2. Hereditary Neuropathy - complex
  3. APTX
Regions in panel
Prev Next

Hereditary Neuropathy - complex

Gene: APTX

Green List (high evidence)
APTX (aprataxin)
EnsemblGeneIds (GRCh38): ENSG00000137074
EnsemblGeneIds (GRCh37): ENSG00000137074
OMIM: 606350, Gene2Phenotype
APTX is in 12 panels

1 review

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Characterised by cerebellar ataxia with peripheral axonal neuropathy

PMID: 11586299
Multiple individuals 7 unrelated families from Japan
All presenting with ataxia and neuropathy like symptoms
Created: 21 May 2023, 11:52 p.m. | Last Modified: 21 May 2023, 11:52 p.m.
Panel Version: 0.149

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia (MIM#208920)

Publications

Created: 21 May 2023, 11:52 p.m.
Last Modified: 21 May 2023, 11:52 p.m.
Panel version: 0.149

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia (MIM#208920)
OMIM
606350
Clinvar variants
Variants in APTX
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 May 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: aptx has been classified as Green List (High Evidence).

30 May 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: APTX were changed from Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia; Hereditary Neuropathies to Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia (MIM#208920)

30 May 2023, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: APTX were set to

13 Jan 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: APTX was added gene: APTX was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: APTX was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: APTX were set to Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia; Hereditary Neuropathies