PAX4

paired box 4
OMIM: 167413, Gene2Phenotype

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
No list PAX4 in Multi-organ autoimmune diabetes Level 3: Disorders of unusual phenotypes Level 2: Endocrine disorders Version 1.12	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Removed Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Maturity-onset diabetes of the young, type IX, 612225 Diabetes mellitus, type 2, 125853 Diabetes mellitus, ketosis-prone, 612227 Maturity Onset Diabetes of the Young Tags curated_removed
Red PAX4 in Diabetes with additional phenotypes suggestive of a monogenic aetiology Level 3: Disorders of unusual phenotypes Level 2: Endocrine disorders Version 1.68	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Maturity-onset diabetes of the young, type IX, 612225 Diabetes mellitus, type 2, 125853 Diabetes mellitus, ketosis-prone, 612227 Maturity Onset Diabetes of the Young
Amber PAX4 in Neonatal diabetes Level 2: Endocrinology Version 5.17 Latest signed off version: v5.0 (7 Aug 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Diabetes mellitus, type 2, OMIM:125853 type 2 diabetes mellitus,MONDO:0005148
Red PAX4 in Familial diabetes Level 3: Disorders of unusual phenotypes Level 2: Endocrine disorders Version 1.68	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Maturity Onset Diabetes of the Young Maturity-onset diabetes of the young, type IX, 612225
No list PAX4 in Monogenic diabetes Level 2: Endocrinology Version 3.8 Latest signed off version: v3.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Removed Phenotypes Maturity-onset diabetes of the young, type IX, 612225 Diabetes mellitus, type 2, 125853 Diabetes mellitus, ketosis-prone, 612227 Maturity Onset Diabetes of the Young Tags curated_removed