Structural basal ganglia disorders
Gene: PDX1EnsemblGeneIds (GRCh38): ENSG00000139515
EnsemblGeneIds (GRCh37): ENSG00000139515
OMIM: 600733, Gene2Phenotype
PDX1 is in 8 panels
2 reviews
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Phenotypes do not appear to be relevant for this panel.
Created: 6 Mar 2017, 4:38 p.m.
Comment on phenotypes: Variants also associated with {Diabetes mellitus, type II, susceptibility to} 125853Created: 6 Mar 2017, 4:26 p.m.
Manju Kurian (UCL-Institute of Child Health)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
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
- Complete
- Panels with this gene
-
- Familial diabetes
- Neonatal diabetes
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Monogenic diabetes
- Childhood onset dystonia, chorea or related movement disorder
- Structural basal ganglia disorders
- Adult onset dystonia, chorea or related movement disorder
- Multi-organ autoimmune diabetes
History Filter Activity
panel promoted to version 1
Sarah Leigh (Genomics England Curator)promoted 16/03/2017
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for PDX1 were set to MODY, type IV 606392; Pancreatic agenesis 1 260370
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Created
Manju Kurian (UCL-Institute of Child Health)PDX1 was created by Manju
Added New Source
Manju Kurian (UCL-Institute of Child Health)PDX1 was added to Structural basal ganglia disorderspanel. Sources: Literature