Genomics England

HNF4A

hepatocyte nuclear factor 4 alpha

Panel	Mode of inheritance	Details
Filter panels6 panels
Green in Congenital hyperinsulinism R-numbers: R144 Signed-off version 3.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Hyperinsulinism, Dominant, Autosomal dominant Hyperinsulinism, MODY, type I, 125850
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.15	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes HNF4A-RELATED MATURITY-ONSET DIABETES OF THE YOUNG TYPE 1 125850, ATYPICAL DOMINANT FANCONI SYNDROME WITH MODY 315353
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.195	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes ATYPICAL DOMINANT FANCONI SYNDROME WITH MODY, HNF4A-RELATED MATURITY-ONSET DIABETES OF THE YOUNG TYPE 1
Green in Monogenic diabetes R-numbers: R141 Signed-off version 2.2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes {Diabetes mellitus, noninsulin-dependent}, 125853, Maturity-Onset Diabetes Of The Young, Type 1, MODY1, 125850, Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young 616026
Green in Nephrocalcinosis or nephrolithiasis Component of the following Super Panels: - Unexplained young onset end-stage renal disease R-numbers: R256 Signed-off version 4.16	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, OMIM:616026
Green in Renal tubulopathies Component of the following Super Panels: - Unexplained young onset end-stage renal disease R-numbers: R198 Signed-off version 4.18	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, OMIM:616026