Hereditary neuropathy or pain disorder

Gene: AGXT

Green List (high evidence)

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

Created: 26 Sep 2024, 1:11 p.m. | Last Modified: 26 Sep 2024, 1:11 p.m.

Panel Version: 5.16

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Green List (high evidence)

Numerous AGXT variants have been associated with OMIM:259900. This gene should be green on this panel, as the panel scope now includes complex phenotypes.

Created: 13 May 2024, 8:57 a.m. | Last Modified: 13 May 2024, 8:57 a.m.

Panel Version: 4.11

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hyperoxaluria, primary, type 1, OMIM:259900

Publications

• 1961759
• 10960483
• 15464418

I don't know

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, 1:38 p.m. | Last Modified: 6 Dec 2019, 1:38 p.m.

Panel Version: 0.24

Gene remains rated Amber: From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - minor feature / Gene well established to cause PH1 Primary Hyperoxaluria (green). 2 reports of neuropathy - enough cases?

Created: 5 Dec 2019, 10:52 a.m. | Last Modified: 6 Dec 2019, 1:39 p.m.

Panel Version: 0.24

Review and rating uploaded from file (Curation_Template_GMS_Neuro_AR_20190521.xlsx) submitted by Alex Rossor (UCL Institute of Neurology) on behalf of London North GLH for GMS Neurology specialist test group.

Created: 11 Jun 2019, 1:40 p.m.

Green List (high evidence)

should be included in R78 panel as panel now includes complex phenotypes e.g. ACOX1, HEXA, HEXB, MCM3AP, MORC2, PIGB, POLR3B, SLC25A46

Created: 17 Mar 2024, 9:06 p.m. | Last Modified: 17 Mar 2024, 9:06 p.m.

Panel Version: 3.83

Gene well established to cause PH1 (green). 2 reports of neuropathy

Created: 6 Jun 2019, 10:52 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Renal failure and deposition of calcium oxalate crystals in tissues including nerve and muscle. Sensory and motor axonal neuropathy (some slowing)

Publications

• 4701948
• 25363903