SLC2A2

Green SLC2A2 in Ketotic hypoglycaemia

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.9

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 1.11

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 1.67

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 Neonatal diabetes

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 4.4
Latest signed off version: v4.0 (22 Mar 2023)

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 2.4
Latest signed off version: v2.0 (22 Mar 2023)

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 1.67

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 2.58
Latest signed off version: v2.2 (25 Feb 2020)

Sources

• Expert Review Removed

Phenotypes

• {Diabetes mellitus, noninsulin-dependent}
• Fanconi-Bickel syndrome
• Fanconi-Bickel syndrome, 227810

Tags

• curated_removed

Amber SLC2A2 in Unexplained young onset end-stage renal disease

Version 3.42
Latest signed off version: v3.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• NHS GMS
• Expert Review Amber

Phenotypes

• Fanconi-Bickel syndrome, OMIM:227810

Tags

• Q4_23_promote_green

Green SLC2A2 in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.617

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 Likely inborn error of metabolism - targeted testing not possible

Version 4.137
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

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 3.169
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• Expert Review Red
• PAGE DD-Gene2Phenotype

Phenotypes

• FANCONI-BICKEL SYNDROME

Green SLC2A2 in DDG2P

Version 3.90
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

Sources

• DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• FANCONI-BICKEL SYNDROME 227810

Green SLC2A2 in Renal tubulopathies

Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 4.17
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Green
• Expert list

Phenotypes

• Fanconi-Bickel syndrome, OMIM:227810

Amber SLC2A2 in Intellectual disability - microarray and sequencing

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.557
Latest signed off version: v5.0 (22 Mar 2023)

Component of the following Super Panels:

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, chorea or related movement disorder

Version 3.78
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• Expert Review Red
• London North GLH

Green SLC2A2 in Severe Paediatric Disorders

Version 1.184

Sources

• Next Generation Children Project
• Expert Review Green
• Expert list

Phenotypes

• Fanconi-Bickel syndrome, 227810