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Hereditary neuropathy NOT PMP22 copy number

Gene: APTX

Amber List (moderate evidence)

APTX (aprataxin)
EnsemblGeneIds (GRCh38): ENSG00000137074
EnsemblGeneIds (GRCh37): ENSG00000137074
OMIM: 606350, Gene2Phenotype
APTX is in 17 panels

7 reviews

Natalie Forrester (SWGLH - Bristol Genetics)

I don't know

More complex phenotype that pure peripheral neuropathy. PMID:11176957 - mutations in patients with progressive cerebellar ataxia, the characteristic ocular apraxia, and a peripheral neuropathy.
Created: 29 Apr 2019, 12:30 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hereditary Neuropathies; ATAXIA WITH OCULOMOTOR APRAXIA 1; Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia

Publications

Louise Daugherty (Genomics England Curator)

I don't know

Gene remains rated as Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - ataxia with neuropathy / Broader phenotype: Ataxia with oculomotor apraxia
Created: 6 Dec 2019, 1:46 p.m. | Last Modified: 6 Dec 2019, 1:46 p.m.
Panel Version: 0.27
Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Created: 6 Dec 2019, 1:42 p.m. | Last Modified: 6 Dec 2019, 1:42 p.m.
Panel Version: 0.27
Comment on list classification: rating changed due to GMS recommendation
Created: 5 Dec 2019, 11:42 a.m. | Last Modified: 5 Dec 2019, 11:42 a.m.
Panel Version: 1.340
Changed from Green to Red: Feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - ataxia with neuropathy. Extension of panel scope - ataxia with neuropathy. Broader phenotype: Ataxia with oculomotor apraxia.
R78 was going to be broadened to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. Subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for this panel to be restricted to genes that are associated with isolated neuropathy.
Created: 5 Dec 2019, 11:40 a.m. | Last Modified: 5 Dec 2019, 11:41 a.m.
Panel Version: 1.339
Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Created: 9 May 2019, 5 p.m.
Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Created: 29 Apr 2019, 12:53 p.m.

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

Rita Horvath (Institute of Genetic Medicine, Newcastle University)

Green List (high evidence)

Variants in this GENE are reported as part of current diagnostic practice

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Source: OMIM and G2P.
Created: 4 May 2016, 9:33 a.m.
Comment on list classification: Promoted from red to green due to expert review, and a confirmed DD gene for AOA1 (ataxia with oculomotor apraxia 1).
Created: 4 May 2016, 9:32 a.m.

Alexander Rossor (UCL Institute of Neurology)

AOA1
Created: 9 Dec 2015, 8:49 a.m.

Mary Reilly (Institute of Neurology)

AOA1
Created: 8 Dec 2015, 3:05 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • South West GLH
  • Emory Genetics Laboratory
  • London North GLH
  • NHS GMS
  • South West GLH
  • NHS GMS
  • London North GLH
Phenotypes
  • Hereditary Neuropathies
  • ATAXIA WITH OCULOMOTOR APRAXIA 1
  • Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
OMIM
606350
Clinvar variants
Variants in APTX
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: aptx has been classified as Amber List (Moderate Evidence).

5 Dec 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: APTX was added gene: APTX was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Emory Genetics Laboratory,Expert Review Red,South West GLH Mode of inheritance for gene: APTX was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: APTX were set to 11176957 Phenotypes for gene: APTX were set to Hereditary Neuropathies; ATAXIA WITH OCULOMOTOR APRAXIA 1; Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia