HNF4A

hepatocyte nuclear factor 4 alpha
OMIM: 600281, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
No list HNF4A 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 UKGTN Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes MODY, type I, 125850 {Diabetes mellitus, noninsulin-dependent}, 125853 Maturity Onset Diabetes of the Young Maturity Onset Diabetes of the Young (MODY) Monogenic Diabetes Maturity-Onset Diabetes Of The Young Tags curated_removed
Green HNF4A 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, NOT imprinted	Sources Expert Review Green UKGTN Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes MODY, type I, 125850 {Diabetes mellitus, noninsulin-dependent}, 125853 Maturity Onset Diabetes of the Young Maturity-onset diabetes of the young (MODY) Maturity-Onset Diabetes Of The Young MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1 MODY1 #616026
Green HNF4A in Nephrocalcinosis or nephrolithiasis Level 2: Renal Version 5.5 Latest signed off version: v5.0 (30 Apr 2025) Component of the following Super Panels: Unexplained young onset end-stage renal disease	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Phenotypes Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, OMIM:616026
Green HNF4A in Congenital hyperinsulinism Level 2: Endocrinology Version 3.7 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Green Illumina TruGenome Clinical Sequencing Services Phenotypes Hyperinsulinism, Dominant Autosomal dominant Hyperinsulinism MODY, type I, 125850
Green HNF4A in Familial diabetes Level 3: Disorders of unusual phenotypes Level 2: Endocrine disorders Version 1.68	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green UKGTN Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes MODY, type I, 125850 Maturity Onset Diabetes of the Young OMIM 616026
Green HNF4A in Monogenic diabetes Level 2: Endocrinology Version 3.8 Latest signed off version: v3.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Phenotypes {Diabetes mellitus, noninsulin-dependent}, OMIM:125853 MODY, type I , OMIM:125850 Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, OMIM:616026
Green HNF4A in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes ATYPICAL DOMINANT FANCONI SYNDROME WITH MODY HNF4A-RELATED MATURITY-ONSET DIABETES OF THE YOUNG TYPE 1
Green HNF4A in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HNF4A-RELATED MATURITY-ONSET DIABETES OF THE YOUNG TYPE 1 125850 ATYPICAL DOMINANT FANCONI SYNDROME WITH MODY 315353
Green HNF4A in Renal tubulopathies Level 2: Renal Version 5.11 Latest signed off version: v5.0 (30 Apr 2025) Component of the following Super Panels: Unexplained young onset end-stage renal disease	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, OMIM:616026
Red HNF4A in Intellectual disability Level 2: Developmental disorders Version 9.279 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes MODY, type I, 125850 {Diabetes mellitus, noninsulin-dependent}, 125853 Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, 616026