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Additional findings_Paediatric

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

Lilian Downie (Victorian Clinical Genetics Services)

Green List (high evidence)

Fructose-1,6-bisphosphatase deficiency is an autosomal recessive disorder characterized by impaired gluconeogenesis. Patients present with hypoglycemia and metabolic acidosis on fasting and may have episodes of hyperventilation, apnea, hypoglycemia, and ketosis. Although the disorder may be lethal in the newborn period, proper treatment yields an excellent prognosis. No reviewed by Babyseq, included in NC NEXUS.
Sources: Expert list
Created: 6 Oct 2020, 3:20 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Fructose-1,6-bisphosphatase deficiency MIM# 229700
OMIM
611570
Clinvar variants
Variants in FBP1
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: fbp1 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: fbp1 has been classified as Green List (High Evidence).

6 Oct 2020, Gel status: 0

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

Lilian Downie (Victorian Clinical Genetics Services)

gene: FBP1 was added gene: FBP1 was added to Newborn Screening_BabySeq. Sources: Expert list 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 Review for gene: FBP1 was set to GREEN