This Panel is marked as Internal
Dystonia - childhood onset
Gene: PDX1
PDX1 (pancreatic and duodenal homeobox 1)
EnsemblGeneIds (GRCh38): ENSG00000139515
EnsemblGeneIds (GRCh37): ENSG00000139515
OMIM: 600733, Gene2Phenotype
PDX1 is in 8 panels
EnsemblGeneIds (GRCh38): ENSG00000139515
EnsemblGeneIds (GRCh37): ENSG00000139515
OMIM: 600733, Gene2Phenotype
PDX1 is in 8 panels
0 reviews
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- MODY, type IV 606392
- Pancreatic agenesis 1 260370
- OMIM
- 600733
- Clinvar variants
- Variants in PDX1
- Penetrance
- None
- Panels with this gene
-
- Structural basal ganglia disorders
- Neonatal diabetes
- Childhood onset dystonia, chorea or related movement disorder
- Monogenic diabetes
- Familial diabetes
- Multi-organ autoimmune diabetes
- Adult onset dystonia, chorea or related movement disorder
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
History Filter Activity
9 Jan 2019, Gel status: 1
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Eleanor Williams: Updated to green when making t
19 Dec 2018, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: PDX1 was added gene: PDX1 was added to Dystonia - childhood onset. Sources: Expert Review Red Mode of inheritance for gene: PDX1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PDX1 were set to MODY, type IV 606392; Pancreatic agenesis 1 260370