Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

BabyScreen+ newborn screening

Gene: FBP1

Green List (high evidence)

FBP1 (fructose-bisphosphatase 1)
EnsemblGeneIds (GRCh38): ENSG00000165140
EnsemblGeneIds (GRCh37): ENSG00000165140
OMIM: 611570, Gene2Phenotype
FBP1 is in 7 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.

Onset in infancy.
Created: 12 Oct 2022, 2:06 a.m. | Last Modified: 12 Oct 2022, 2:06 a.m.
Panel Version: 0.541

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fructose-1,6-bisphosphatase deficiency, MIM# 229700

John Christodoulou (Murdoch Children's Research Institute)

Green List (high evidence)

treatment: Sucrose and fructose restricted diet, uncooked cornstarch to limit overnight fasting (PMID: 29370874; PMID: 31804789) - Rx-genes
Created: 10 Oct 2022, 11:41 a.m. | Last Modified: 10 Oct 2022, 11:41 a.m.
Panel Version: 0.541

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
fasting hypoglycemia; metabolic acidosis; ketosis

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BeginNGS
  • Expert list
Phenotypes
  • Fructose-1,6-bisphosphatase deficiency MIM# 229700
Tags
treatable metabolic
OMIM
611570
Clinvar variants
Variants in FBP1
Penetrance
None
Panels with this gene

History Filter Activity

27 Dec 2022, Gel status: 3

Added Tag, Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: FBP1. Tag metabolic tag was added to gene: FBP1.

12 Oct 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: fbp1 has been classified as Green List (High Evidence).

18 Sep 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FBP1 was added gene: FBP1 was added to gNBS. Sources: Expert list,BeginNGS,Expert Review Green Mode of inheritance for gene: FBP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FBP1 were set to Fructose-1,6-bisphosphatase deficiency MIM# 229700