Adult onset movement disorderGene: PDX1
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.
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
MODY, type IV 606392; Pancreatic agenesis 1 260370
Added phenotypes MODY, type IV 606392; Pancreatic agenesis 1 260370 for gene: PDX1
Source NHS GMS was added to PDX1.
Source South West GLH was added to PDX1.
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