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Glycogen Storage Diseases

Gene: FBP1

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Hepatic fructose-1,6-bisphosphatase catalyzes the hydrolysis of fructose-1,6 bisphosphate to fructose-6-phosphate and inorganic phosphate. This reaction is an important regulatory site of gluconeogenesis.

Patients present with hypoglycemia and metabolic acidosis on fasting and may have episodes of hyperventilation, apnea, hypoglycemia, and ketosis.
Created: 25 Feb 2021, 9:56 a.m. | Last Modified: 25 Feb 2021, 9:56 a.m.
Panel Version: 0.40

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 25 Feb 2021, 9:56 a.m.
Last Modified: 25 Feb 2021, 9:56 a.m.
Panel version: 0.40

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Fructose-1,6-bisphosphatase deficiency, MIM# 229700
OMIM
611570
Clinvar variants
Variants in FBP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Feb 2021, 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).

25 Feb 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: FBP1 were changed from to Fructose-1,6-bisphosphatase deficiency, MIM# 229700

25 Feb 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: FBP1 were set to

25 Feb 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: FBP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FBP1 was added gene: FBP1 was added to Glycogen Storage Diseases_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: FBP1 was set to Unknown