Hereditary neuropathy or pain disorder

Gene: APTX

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.

Created: 24 Feb 2025, 5:02 p.m. | Last Modified: 24 Feb 2025, 5:02 p.m.

Panel Version: 6.148

APTX variants have been associated with Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, (OMIM:208920) and as definitive Gen2Phen gene for the same condition. Numerous APTX variants have been reported in numerous unrelated cases (PMID: 11176957;11586299;12196655;15852392).

Created: 29 Aug 2024, 4:07 p.m. | Last Modified: 29 Aug 2024, 4:07 p.m.

Panel Version: 5.12

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

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.

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.

Green List (high evidence)

As per previous comments, complex phenotype, lots of evidence causes neuropathy as submitted i multiuple previous reviews

Created: 15 Oct 2024, 10:08 p.m. | Last Modified: 15 Oct 2024, 10:08 p.m.

Panel Version: 5.19

APTX recessive variants are a well established cause of cerebellar ataxia and peripheral neuropathy

Created: 9 Jul 2024, 9:22 p.m. | Last Modified: 9 Jul 2024, 9:22 p.m.

Panel Version: 4.11

AOA1

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

Publications

• 11176957

AOA1

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