Genomics England
GMS Panels
Panels
Genes and Entities

HNF4A

hepatocyte nuclear factor 4 alpha
OMIM: 600281
PanelMode of inheritanceDetails
6 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 5.48
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 5.80
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 2.60
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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
in Nephrocalcinosis or nephrolithiasis
Component of the following Super Panels:
  • - Unexplained young onset end-stage renal disease
R-numbers: R256
Signed-off version 4.19
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 4.21
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, OMIM:616026