Hereditary neuropathy

Gene: APTX

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

• 11176957

Green List (high evidence)

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 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.

Green List (high evidence)

Green List (high evidence)

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.

AOA1

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

AOA1

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