FBP1

fructose-bisphosphatase 1
OMIM: 611570, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Green FBP1 in Ketotic hypoglycaemia

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.7

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • UKGTN
Phenotypes
  • Glycogen Storage Disorders- Liver
  • Glycogen Storage Disease

Green FBP1 in Glycogen storage disease


Version 1.8
Latest signed off version: v1.2 (18 Feb 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Wessex and West Midlands GLH
  • Expert Review Green
Phenotypes
  • Fructose-1,6-bisphosphatase deficiency 229700

Green FBP1 in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.542

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Fructose-1,6-bisphosphatase deficiency (Disorders of gluconeogenesis)
  • Glycogen Storage Disorders- Liver
  • Glycogen Storage Disease

Green FBP1 in Inborn errors of metabolism


Version 2.263
Latest signed off version: v2.3 (17 Feb 2020)

Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Glycogen Storage Disease
    • Glycogen Storage Disorders- Liver
    • Fructose-1,6-bisphosphatase deficiency (Disorders of gluconeogenesis)

    Red FBP1 in Fetal anomalies


    Version 1.880
    Latest signed off version: v1.92 (21 Aug 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • FRUCTOSE 1,6 BISPHOSPHATASE DEFICIENCY

    Green FBP1 in DDG2P


    Version 2.76
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • FRUCTOSE 1,6 BISPHOSPHATASE DEFICIENCY 229700

    Red FBP1 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1651
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Fructose-1,6-bisphosphatase deficiency, 229700

    Red FBP1 in Childhood onset dystonia or chorea or related movement disorder


    Version 1.240
    Latest signed off version: v1.137 (5 Aug 2021)

    review Not set
    Sources
    • Expert Review Red
    • London North GLH

    Green FBP1 in Severe Paediatric Disorders


    Version 1.127

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Fructose-1,6-bisphosphatase deficiency, 229700