Hereditary neuropathy
Gene: APTX
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
The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.Created: 7 Dec 2019, 6:08 p.m. | Last Modified: 7 Dec 2019, 6:08 p.m.
Panel Version: 1.352
Comment on list classification: rating changed due to GMS recommendationCreated: 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.
Variants in this GENE are reported as part of current diagnostic practice
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.
AOA1Created: 9 Dec 2015, 8:49 a.m.
AOA1Created: 8 Dec 2015, 3:05 p.m.
Source Expert Review Green was added to APTX. Rating Changed from Red List (low evidence) to Green List (high evidence)
Gene: aptx has been classified as Red List (Low Evidence).
Added phenotypes Hereditary Neuropathies; Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia; ATAXIA WITH OCULOMOTOR APRAXIA 1 for gene: APTX Publications for gene APTX were changed from to 11176957
Source South West GLH was added to APTX.
Source NHS GMS was added to APTX.
Source London North GLH was added to APTX. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Phenotypes for APTX were set to Hereditary Neuropathies; ATAXIA WITH OCULOMOTOR APRAXIA 1; Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
Mode of inheritance for APTX was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
APTX was added to Charcot-Marie-Tooth diseasepanel. Sources: Emory Genetics Laboratory