1. Panels
  2. Adult onset dystonia, chorea or related movement disorder
  3. PDX1
Genes in panel
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Adult onset dystonia, chorea or related movement disorder

Gene: PDX1

Red List (low evidence)
PDX1 (pancreatic and duodenal homeobox 1)
EnsemblGeneIds (GRCh38): ENSG00000139515
EnsemblGeneIds (GRCh37): ENSG00000139515
OMIM: 600733, Gene2Phenotype
PDX1 is in 8 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels - Early onset dystonia (v1.76, code 192) - Parkinson Disease and Complex Parkinsonism (v1.64, code 39) - Brain channelopathy (v1.48, code 90) - Structural basal ganglia disorders (v1.10, code 180). This gene was RED and external expert review from South West GLH for GMS Neurology specialist test group for R56 agrees this gene should remain RED
Created: 19 Jun 2019, 4:44 p.m.
Review and rating from Emily Jones (North Bristol NHS Trust) on behalf of South West GLH for GMS Neurology specialist test group.
Created: 23 Apr 2019, 12:18 p.m.
Created: 23 Apr 2019, 12:18 p.m.

Panel version: 0.88

Emily Jones (North Bristol NHS Trust)

Red List (low evidence)

Reported phenotypes do not appear to be relevant to this panel. Gene has possibly been confused with PDHX, which has an alias of PDX1.
Created: 23 Apr 2019, 12:14 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
MODY, type IV 606392; Pancreatic agenesis 1 260370

Created: 23 Apr 2019, 12:14 p.m.

Panel version: 0.49

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • South West GLH
  • Expert Review Red
Phenotypes
  • MODY, type IV 606392
  • Pancreatic agenesis 1 260370
  • Pancreatic agenesis 1
OMIM
600733
Clinvar variants
Variants in PDX1
Penetrance
None
Panels with this gene

History Filter Activity

23 Apr 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes MODY, type IV 606392; Pancreatic agenesis 1 260370 for gene: PDX1

23 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to PDX1.

23 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to PDX1.

3 Jan 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: PDX1 was added gene: PDX1 was added to Adult onset movement disorder. Sources: Expert Review Red Mode of inheritance for gene: PDX1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PDX1 were set to Pancreatic agenesis 1; MODY, type IV 606392