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  3. HNF4A
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Additional findings_Paediatric

Gene: HNF4A

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

1 review

Lilian Downie (Victorian Clinical Genetics Services)

Green List (high evidence)

Rated as 'C' by Babyseq as definitive gene disease association, moderate penetrance, non actionable in childhood. Early diagnosis would prevent further investigation and help to guide management.
Created: 5 Oct 2020, 4:24 a.m. | Last Modified: 5 Oct 2020, 4:24 a.m.
Panel Version: 0.101

Phenotypes
Hypoglycaemia, hyperinsulinaemic

Created: 5 Oct 2020, 4:24 a.m.
Last Modified: 5 Oct 2020, 4:24 a.m.
Panel version: 0.101

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • BabySeq Category C gene
Phenotypes
  • Hypoglycaemia, hyperinsulinaemic
OMIM
600281
Clinvar variants
Variants in HNF4A
Penetrance
None
Panels with this gene

History Filter Activity

6 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hnf4a has been classified as Green List (High Evidence).

6 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hnf4a has been classified as Green List (High Evidence).

27 Aug 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: HNF4A was added gene: HNF4A was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: HNF4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: HNF4A were set to Hypoglycaemia, hyperinsulinaemic