SLC2A2

solute carrier family 2 member 2
OMIM: 138160, Gene2Phenotype

14 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 14 panels
Green SLC2A2 in Ketotic hypoglycaemia Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.10	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 1.12	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 1.68	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 Neonatal diabetes Level 2: Endocrinology Version 5.17 Latest signed off version: v5.0 (7 Aug 2024)	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 Level 2: Metabolic Version 2.6 Latest signed off version: v2.0 (22 Mar 2023)	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 1.68	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 Level 2: Endocrinology Version 3.10 Latest signed off version: v3.0 (30 Apr 2025)	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 1.642	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 Likely inborn error of metabolism Level 2: Metabolic Version 8.91 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	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 Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red PAGE DD-Gene2Phenotype Phenotypes FANCONI-BICKEL SYNDROME
Green SLC2A2 in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes FANCONI-BICKEL SYNDROME 227810
Green SLC2A2 in Renal tubulopathies Level 2: Renal Version 5.11 Latest signed off version: v5.0 (30 Apr 2025) Component of the following Super Panels: Unexplained young onset end-stage renal disease	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Fanconi-Bickel syndrome, OMIM:227810
Amber SLC2A2 in Intellectual disability Level 2: Developmental disorders Version 9.285 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	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, chorea or related movement disorder Level 2: Neurology Version 7.13 Latest signed off version: v7.0 (30 Apr 2025)	review	Not set	Sources Expert Review Red London North GLH