Childhood onset dystonia, chorea or related movement disorder
Gene: PDX1

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

1 review

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: 9 Jul 2019, 3:59 p.m. | Last Modified: 9 Jul 2019, 3:59 p.m.

Panel Version: 0.10

Created: 9 Jul 2019, 3:59 p.m.
Last Modified: 9 Jul 2019, 3:59 p.m.
Panel version: Imported from GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH panel version 0.10

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

South West GLH

Phenotypes

Pancreatic agenesis 1 260370
MODY, type IV 606392

OMIM

600733

Clinvar variants

Variants in PDX1

Penetrance

None

Panels with this gene

History Filter Activity

6 Dec 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 Childhood onset dystonia or chorea or related movement disorder. Sources: South West GLH Mode of inheritance for gene: PDX1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PDX1 were set to Pancreatic agenesis 1 260370; MODY, type IV 606392

Childhood onset dystonia, chorea or related movement disorder Gene: PDX1