PDX1

pancreatic and duodenal homeobox 1
OMIM: 600733, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
No list PDX1 in Multi-organ autoimmune diabetes Level 3: Disorders of unusual phenotypes Level 2: Endocrine disorders Version 1.11	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Removed UKGTN Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Phenotypes MODY type IV Maturity Onset Diabetes of the Young (MODY) Neonatal Diabetes Maturity-Onset Diabetes Of The Young Monogenic Diabetes Tags curated_removed
Green PDX1 in Diabetes with additional phenotypes suggestive of a monogenic aetiology Level 3: Disorders of unusual phenotypes Level 2: Endocrine disorders Version 1.67	review	BIALLELIC, autosomal or pseudoautosomal	Sources UKGTN Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Phenotypes MODY type IV Maturity-onset diabetes of the young (MODY) Maturity-Onset Diabetes Of The Young Permanent neonatal diabetes MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 4 MODY4
Green PDX1 in Neonatal diabetes Level 3: Disorders of unusual phenotypes Level 2: Endocrine disorders Version 4.4 Latest signed off version: v4.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Eligibility statement prior genetic testing UKGTN Phenotypes Pancreatic agenesis 1, OMIM:260370 MODY, type IV, OMIM:606392 Permanent neonatal diabetes mellitus, MONDO:0100164 permanent neonatal diabetes mellitus associated with pancreas agenesis
Green PDX1 in Familial diabetes Level 3: Disorders of unusual phenotypes Level 2: Endocrine disorders Version 1.67	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green UKGTN Emory Genetics Laboratory Phenotypes Pancreatic agenesis 1
Red PDX1 in Structural basal ganglia disorders Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.39	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes MODY, type IV 606392 Pancreatic agenesis 1 260370
Green PDX1 in Monogenic diabetes Version 2.57 Latest signed off version: v2.2 (25 Feb 2020)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Pancreatic agenesis 1, OMIM:260370 MODY, type IV, OMIM:606392
Red PDX1 in Adult onset dystonia, chorea or related movement disorder Version 3.18 Latest signed off version: v3.12 (31 Jul 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS South West GLH Expert Review Red Phenotypes MODY, type IV 606392 Pancreatic agenesis 1 260370 Pancreatic agenesis 1
Red PDX1 in Childhood onset dystonia, chorea or related movement disorder Version 3.75 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources South West GLH Phenotypes Pancreatic agenesis 1 260370 MODY, type IV 606392