Genes in panel

Neurodegenerative disorders - adult onset

Gene: ARX

Red List (low evidence)

ARX (aristaless related homeobox)
EnsemblGeneIds (GRCh38): ENSG00000004848
EnsemblGeneIds (GRCh37): ENSG00000004848
OMIM: 300382, Gene2Phenotype
ARX is in 14 panels

3 reviews

Nick Beauchamp (Sheffield Diagnostic Genetics Service)

Red List (low evidence)

Intellectual disability and dystonia phenotype
Created: 23 Jul 2019, 3:35 p.m. | Last Modified: 23 Jul 2019, 3:35 p.m.
Panel Version: 1.72

Mode of inheritance
Unknown

Phenotypes
Dystonia

Louise Daugherty (Genomics England Curator)

I don't know

Comment on list classification: Prior to GLH sign off for this panel, ARX was discussed further by the specialist test group. It was agreed by all GLHs (Wessex and West Midlands GLH, Yorkshire and North East GLH, London North GLH) to downgrade this gene from Amber to Red.
Created: 28 Nov 2019, 1:26 p.m. | Last Modified: 28 Nov 2019, 1:26 p.m.
Panel Version: 1.110
As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber
Created: 20 Sep 2019, 4:19 p.m. | Last Modified: 20 Sep 2019, 4:19 p.m.
Panel Version: 1.106
Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m.
Panel Version: 1.74
Review and rating from Anthony Dallosso (Bristol Genetics Laboratory), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Created: 23 Apr 2019, 3:05 p.m.

Anthony Dallosso (Bristol Genetics Laboratory)

I don't know

1 family (23657928) with X-L ID and dystonia in multiple male relatives.
Created: 23 Apr 2019, 2:42 p.m.

Mode of inheritance
Unknown

Phenotypes
Dystonia

History Filter Activity

28 Nov 2019, Gel status: 1

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: arx has been classified as Red List (Low Evidence).

20 Sep 2019, Gel status: 2

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Amber was added to ARX. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

23 Jul 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to ARX.

8 Jul 2019, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: ARX were set to

23 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to ARX.

23 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to ARX.

25 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Rebecca Foulger: Gene awaiting curator evaluati

18 Dec 2018, Gel status: 1

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

Rebecca Foulger (Genomics England curator)

gene: ARX was added gene: ARX was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: ARX was set to Unknown Phenotypes for gene: ARX were set to Dystonia