SLC2A2

solute carrier family 2 member 2
OMIM: 138160, Gene2Phenotype

15 panels

Panel Reviews Mode of inheritance Details
15 panels

Green SLC2A2 in Ketotic hypoglycaemia

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.5

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Emory Genetics Laboratory
  • Literature
Phenotypes
  • renal falcon syndrome, aminoaciduria phosphaturia, small stature, malabsorption, hepatomegaly and nephromegaly.
  • Glycogen Storage Disorders- Liver
  • Fanconi-Bickel Syndrome

No list SLC2A2 in Multi-organ autoimmune diabetes

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.8

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • {Diabetes mellitus, noninsulin-dependent}
  • Fanconi-Bickel syndrome, 227810
  • Neonatal Diabetes
Tags
  • curated_removed

Green SLC2A2 in Diabetes with additional phenotypes suggestive of a monogenic aetiology

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.63

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • {Diabetes mellitus, noninsulin-dependent}
  • Fanconi-Bickel syndrome, 227810
  • Fanconi-Bickel syndrome

Green SLC2A2 in Diabetes - neonatal onset

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 2.34
Latest signed off version: v2.2 (19 Feb 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • UKGTN
Phenotypes
  • Fanconi-Bickel syndrome, OMIM:227810
  • neonatal diabetes mellitus, MONDO:0016391
  • transient neonatal diabetes mellitus (disease), MONDO:0020525
  • permanent neonatal diabetes mellitus, MONDO:0100164

Green SLC2A2 in Glycogen storage disease


Version 1.7
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
  • Fanconi-Bickel syndrome 227810

Green SLC2A2 in Familial diabetes

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.63

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • {Diabetes mellitus, noninsulin-dependent}
  • Fanconi-Bickel syndrome

No list SLC2A2 in Monogenic diabetes


Version 2.43
Latest signed off version: v2.2 (25 Feb 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
Phenotypes
  • {Diabetes mellitus, noninsulin-dependent}
  • Fanconi-Bickel syndrome
  • Fanconi-Bickel syndrome, 227810
Tags
  • curated_removed

Green SLC2A2 in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.486

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Glucose transporter 2 deficiency (Disorders of glucose transport)
  • Glycogen storage disease type XI (Glycogen storage disorders)
  • renal falcon syndrome, aminoaciduria phosphaturia, small stature, malabsorption, hepatomegaly and nephromegaly.
  • Glycogen Storage Disorders- Liver
  • Fanconi-Bickel Syndrome

Green SLC2A2 in Inborn errors of metabolism


Version 2.187
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 type XI (Glycogen storage disorders)
    • Glycogen Storage Disorders- Liver
    • Glucose transporter 2 deficiency (Disorders of glucose transport)
    • Fanconi-Bickel Syndrome
    • renal falcon syndrome, aminoaciduria phosphaturia, small stature, malabsorption, hepatomegaly and nephromegaly.

    Red SLC2A2 in Fetal anomalies


    Version 1.728
    Latest signed off version: v1.92 (21 Aug 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • FANCONI-BICKEL SYNDROME

    Green SLC2A2 in DDG2P


    Version 2.49
    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
    • FANCONI-BICKEL SYNDROME 227810

    Amber SLC2A2 in Renal tubulopathies

    Level 3: Disorders of function
    Level 2: Renal and urinary tract disorders
    Version 2.30
    Latest signed off version: v2.23 (16 Oct 2020)

    Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Fanconi-Bickel syndrome, MIM# 227810
    Tags
    • for-review

    Amber SLC2A2 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1367
    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
    • Victorian Clinical Genetics Services
    • Expert Review Amber
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • {Diabetes mellitus, noninsulin-dependent}, 135853
    • Fanconi-Bickel
    • syndrome, 227810

    Red SLC2A2 in Childhood onset dystonia or chorea or related movement disorder


    Version 1.157
    Latest signed off version: v1.137 (5 Aug 2021)

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

    Green SLC2A2 in Severe Paediatric Disorders


    Version 1.84

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Fanconi-Bickel syndrome, 227810