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GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH

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

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: 0.10

History Filter Activity

9 Jul 2019, Gel status: 1

Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene PDX1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Pancreatic agenesis 1 260370; MODY, type IV 606392 for gene: PDX1

2 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Expert Review Red was added to PDX1.

2 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: PDX1 was added gene: PDX1 was added to GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH. Sources: South West GLH Mode of inheritance for gene: PDX1 was set to