BabyScreen+ newborn screening
Gene: HNF4A

HNF4A (hepatocyte nuclear factor 4 alpha)
EnsemblGeneIds (GRCh38): ENSG00000101076
EnsemblGeneIds (GRCh37): ENSG00000101076
OMIM: 600281, Gene2Phenotype
HNF4A is in 9 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Variants in this gene are associated with a spectrum of disorders, including Fanconi renotubular syndrome, which is of congenital onset. Hyperinsulinism and hypoglycaemia manifest in the newborn period. These infants are likely to be identified clinically.

At the milder end of the spectrum, variants are associated with MODY.

Treatment of hyperinsulinism: diazoxide, somatostatin analogs, nifedipine, glucagon, IGF-1, glucocorticoids, growth hormone, pancreatic resection, mTOR inhibitors, GLP-1 receptor antagonists, sirolimus.

For review.
Created: 11 Dec 2022, 10:21 p.m. | Last Modified: 11 Dec 2022, 10:21 p.m.

Panel Version: 0.1292

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, OMIM #616026; MODY, type I, OMIM # 125850

Created: 11 Dec 2022, 10:21 p.m.
Last Modified: 11 Dec 2022, 10:21 p.m.
Panel version: 0.1292

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Amber
BabySeq Category C gene
BeginNGS

Phenotypes

Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, MIM# 616026
Hypoglycaemia, hyperinsulinaemic, MIM#125850
MODY, type I, OMIM # 125850

Tags

for review endocrine

OMIM

600281

Clinvar variants

Variants in HNF4A

Penetrance

None

Panels with this gene